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PubMed2000

Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes.

The purposes of this study were (1) to document outcome after primary fronto-orbital advancement for the four major eponymous craniosynostotic syndromes (Apert, Crouzon, Pfeiffer, and Saethre-Chotzen) and (2) to identify factors that might influence need for primary and secondary fronto-orbital advancement or foreheadplasty. Also tested was the hypothesis that coincident sagittal synostosis could modulate brachycephaly and affect whether a primary or secondary frontal operation was necessary. Data were collected on age and indications for initial operation, type of primary and secondary frontal procedures, and concomitant sagittal synostosis. Patients initially managed by subcranial Le Fort III were included in the study group but excluded from analysis of fronto-orbital advancement. Patients treated by monobloc advancement or Le Fort III osteotomies with frontal grafting or Anderl modification were assessed as having had primary fronto-orbital advancement. Minimum time to follow-up was 5 years. A total of 126 patients met inclusion criteria. Lateral photographs were examined to assess preoperative and postoperative sagittal position of supraorbital rims-to-globes. Frontal re-advancement was indicated if the corneal apex was anterior to the supraorbital rim. Foreheadplasty was indicated for unacceptable frontal contour and normal supraorbital rim-to-globe relationship. Primary correction for frontal retrusion was not required in 4 percent of Apert (1 of 25), 16 percent of Crouzon (7 of 44), 6 percent of Pfeiffer (2 of 31), and 19 percent of Saethre-Chotzen (5 of 26) patients. Of those infants who had a primary fronto-orbital advancement, reoperation for either supraorbital retrusion or frontal deformity was necessary in all 16 Apert patients and in 5 of 19 Crouzon (26 percent), 10 of 26 Pfeiffer (38 percent), and 13 of 20 Saethre-Chotzen (65 percent) patients (p < 0.001). Age at initial fronto-orbital advancement did not influence reoperative rate. No correlation was found between concomitant sagittal synostosis and necessity for primary or secondary frontal correction (p = 0.22). In summary, phenotypic diagnosis was determinant for outcome as defined by need for secondary fronto-orbital advancement, foreheadplasty, or both. Apert patients had the highest incidence of reoperation for frontal retrusion or forehead contour. Crouzon and Saethre-Chotzen patients were most likely to express a minor phenotype and not require fronto-orbital correction. Coincident sagittal synostosis did not influence frontal projection, as reflected in need for either primary or secondary frontal advancement.

Acrocephalosyndactylia↗
PubMed2001

Plasticity of the endocranial base in nonsyndromic craniosynostosis.

Limited in vivo data exist on the dysmorphology of the cranial base in nonsyndromic craniosynostosis. Few studies have documented the effect of calvarial surgery for synostosis on endocranial morphology. Previous work has suggested that the dysmorphology of the endocranial base is diagnostically specific for metopic, sagittal, and unicoronal sutures. The purpose of this study was to further evaluate the endocranial base in infants with nonsyndromic craniosynostosis by testing the hypothesis that the dysmorphology is, to some degree, a secondary deformation rather than a primary malformation. Three questions were addressed: (1) Can individuals reliably identify affected suture-specific endocranial-base morphology using standard templates? (2) Does calvarial surgery in infancy for craniosynostosis affect the perception of endocranial-base morphology? and (3) Does calvarial surgery in infancy for nonsyndromic craniosynostosis normalize the endocranial base?In this study, three-dimensional volumetric reconstructions from archived computed tomography digital data were processed using the ANALYZE imaging software. Dysmorphology was assessed by nine independent, blinded skilled observers who reviewed two separate sets of images of endocranial bases. Both sets contained images from the same patients: one set contained preoperative images, and the other contained images of the endocranial base 1 year after calvarial surgery. Observers were asked to sort each set into four suture-specific diagnostic groups: normal, unicoronal, metopic, and sagittal. Each set contained 10 patients with unicoronal synostosis, 10 with metopic synostosis, 10 with sagittal synostosis, and four normal patients. Seventy-eight percent of the total number of preoperative images were correctly sorted into the suture-specific diagnostic group, whereas only 55 percent of the total number of postoperative images were correctly matched. With regard to the individual sutures, the results were as follows (data are presented as preoperative accuracy versus postoperative accuracy): metopic, 76 percent versus 44 percent; sagittal, 58 percent versus 34 percent; unicoronal, 100 percent versus 79 percent; and normal, 83 percent versus 72 percent. Although 36 of 306 total images per group (12 percent) actually represented normal patients, the observers called 72 of 306 normal (24 percent) in the preoperative set versus 110 of 306 normal (36 percent) in the postoperative set. In conclusion, (1) the endocranial dysmorphology of nonsyndromic craniosynostosis is recognizably specific to the affected suture; (2) calvarial surgery for nonsyndromic craniosynostosis normalizes the endocranial base qualitatively with regard to the diminished ability of raters to identify the primary pathology; and (3) the documented postoperative changes in endocranial base morphology after calvarial surgery for nonsyndromic craniosynostosis in infancy indicates that a major component of that dysmorphology is a secondary deformity rather than a primary malformation.

Craniosynostoses↗
PubMed2001

The craniofacial anomalies archive at St. Louis Children's Hospital: 20 years of craniofacial imaging experience.

This article describes how the Craniofacial Imaging Laboratory at the Cleft Palate and Craniofacial Deformities Institute, St. Louis Children's Hospital, Washington University Medical Center, has developed an electronic archive for the storage of computed tomography image digital data that is independent of scanner hardware and independent of units of storage media (i.e., floppy disks and optical disks). The archive represents one of the largest repositories of high-quality computed tomography data of children with craniofacial deformities in the world. Archiving reconstructed image data is essential for comparative imaging, surgical simulation, quantitative analysis, and use with solid model fabrication (e.g., stereolithography). One tertiary craniofacial center's experience in the establishment and maintenance of such an archive through three generations of storage technology is reported. The current archive is housed on an external 35-GB hard drive attached to a Windows-based desktop server. Data in the archive were categorized by specific demographics into groups of patients, number of scans, and diagnoses. The Craniofacial Imaging Laboratory archive currently contains computed tomography image digital data for 1827 individual scans. The earliest scan was done in 1980; the most recently stored scan for the purposes of this report occurred in May of 2000. The average number of scans archived per complete year was 94, with a range of 59 to 138. Of the 1827 total scans, 74 percent could be classified into specific diagnostic categories. The majority of the archive (55 percent) is composed of the following five diagnoses: sagittal synostosis (17 percent), unilateral coronal synostosis (11 percent), hemifacial microsomia (10 percent), plagiocephaly without synostosis (10 percent), and metopic synostosis (7 percent). Storage of computed tomography image data in a digital archive currently allows for continuous upgrading of image display and analysis and facilitates longitudinal and cross-sectional studies, both intramural and extramural. Internet access for clinical and research purposes is feasible, but contingent on protection of patient confidentiality. The future of digital imaging regarding craniofacial computed tomography scan storage and processing is also discussed.

Child↗
PubMed2003

Maxillary volume growth in craniosynostosis.

Craniosynostosis, and in particular, craniofacial dysostosis, exhibits abnormalities of the nasomaxillary complex in form, position, and development. The aim of this study was to quantitatively assess the volumetric maxillary abnormality in patients at the time of initial diagnosis of craniosynostosis and to make comparisons with a "normal" reference range for maxillary volumes throughout childhood. The technique of segmentation was applied to preoperative computed tomographic head scans obtained in 31 children (14 boys, 17 girls), between 1 and 34 months of age (mean, 11.06 months), who underwent cranial expansion surgery for craniosynostosis affecting the coronal suture complex. Maxillary volumes were plotted against age for the first 3 years of life and were compared with a healthy population. There was no statistical difference between the two sexes for mean maxillary volume. The mean maxillary volumes for the entire group were statistically smaller than the norm (p = 0.046, linear regression with age as a covariable), but there was no statistical difference among the four different groups of coronal synostosis (unilateral coronal, nonsyndromic bilateral coronal, nonsyndromic complex pansynostosis, syndromic bilateral coronal synostosis) (p = 0.407, one-way analysis of variance). On graphic data analysis, the maxillary volume was smaller than the norm in craniosynostotic children who presented in the first few months of life. However, by 7 months of age in nonsyndromic bilateral coronal synostosis and by 17 months of age in syndromic bilateral coronal synostosis, the maxillary volumes had increased toward the norm. This implies that the effect of the craniosynostotic process on the midface structures is present from birth and parallels the effect on the cranial vault sutures.

Age Factors↗
PubMed2004

American society of maxillofacial surgeons outcome study: preoperative and postoperative neurodevelopmental findings in single-suture craniosynostosis.

The purpose of this study was to prospectively determine the neurodevelopmental effects associated with single-suture, nonsyndromic craniosynostosis before and after surgery. Children diagnosed with single-suture craniosynostosis were evaluated by a psychologist using the Bayley Scales of Infant Development-Second Edition (BSID-II) within 2 months before and again 1 year after surgical correction. The BSID-II is a widely used measure of infant cognitive and motor development. The scale consists of three parts, the Mental Developmental Index (MDI), the Psychomotor Developmental Index (PDI), and the Behavior Rating Scale. The MDI and PDI yield age-standard scores (mean, 100; SD, 16). The children ranged in age from 2.5 to 10 months at the time of the craniofacial reconstruction (average age, 5.9 months). Metopic synostosis was diagnosed in 23 percent, sagittal synostosis in 45 percent, and unilateral coronal synostosis in 32 percent of patients. Twenty-two patients were evaluated preoperatively, of whom 15 patients were evaluated postoperatively. Mean baseline BSID-II scores revealed a mild delay in mental and motor scores (MDI, 82.3; PDI, 79.5). Mean postoperative BSID-II scores still revealed a mild delay in mental scores but significantly improved motor scores (MDI, 79.3; PDI, 89.3). Of the 15 children, four (27 percent) had BSID-II evaluations that were in the average range for all scales and nine infants (60 percent) had at least one MDI or PDI score in the significantly delayed range (<70). Among children with single-suture nonsyndromic craniosynostosis, mean Bayley scores indicated mild baseline deficits in both mental and motor scores. After surgical treatment, improvement was seen in the motor scale. It appears from this sample that neurodevelopmental abnormalities may be present in children with single-suture synostosis, and some may persist at 1 year of follow-up.

Cranial Sutures↗
PubMed2006

Intracranial volume changes in craniosynostotic rabbits: effects of age and surgical correction.

BACKGROUND: The premature fusion of one or more cranial sutures, termed craniosynostosis, alters normal brain growth patterns and results in compensatory changes in the cranial vault. The authors previously reported that bilateral coronal suture fusion resulted in a reduction in intracranial volume in a rabbit model of nonsyndromic, familial coronal suture synostosis. METHODS: The current follow-up study involved collecting cross-sectional three-dimensional computed tomographic head scans from 142 rabbits (70 normal, 44 with uncorrected synostosis, and 28 synostosed rabbits with coronal suturectomy) at 0, 10, 25, 42, 84, and 126 days of age. Intracranial contents were reconstructed, and indirect intracranial volume was calculated. RESULTS: Results revealed a significant (p < 0.05) postsynostotic reduction of intracranial volume (23 percent) by 25 days of age in rabbits with uncorrected craniosynostosis compared with normal controls, which continued through 84 days of age. Also, rabbits with surgically released synostosis, using a simple strip suturectomy, showed significantly (p < 0.05) greater intracranial volume at 25 days of age compared with unoperated synostosed rabbits. However, no changes in intracranial volume were noted between 42 and 84 days of age in rabbits with surgically released synostosis, at which point their intracranial volume was 30 percent less than that in normal control rabbits. CONCLUSIONS: These data suggest that in rabbits with uncorrected craniosynostosis, compensatory changes in the neurocranium were not capable of compensating for the loss of sutures as growth sites. The results also showed that that surgical release of the synostosed suture improved intracranial volume in the short term (25 to 42 days) but failed to change it in the long term (42 to 84 days), possibly because of rapid resynostosis of the suturectomy site. This study suggests that surgical release of the suture fusion site alone may not be adequate to allow for normal intracranial volume growth in synostotic rabbits. For this reason, it may be efficacious to design and develop adjunct protein and gene therapies to prevent resynostosis and improve postoperative intracranial volume in craniosynostotic individuals.

Age Factors↗
PubMed1992

The subarachnoid spaces in craniosynostosis.

A review of 85 patients with various forms of craniosynostosis showed predictable patterns of dilatation of the subarachnoid spaces in regions of compensatory skull growth. The characteristic pattern in sagittal synostosis (43 patients) included dilatation of the frontal and occipital subarachnoid spaces associated with the elongation of the anteroposterior dimension of the skull and widening of the interhemispheric fissure. In 11 patients with unilateral coronal synostosis, dilatations of the subarachnoid spaces over the contralateral frontal lobe, the sylvian regions, and the ipsilateral temporal lobe tip were consistent with the skull changes of contralateral frontal bossing, increased bitemporal dimension, and elevation of the sphenoid wing, respectively. Four patients with bilateral coronal synostosis also had enlarged subarachnoid spaces high over the convexities of the brain consistent with the towering configuration of the skull. Four patients with true lambdoid synostosis had dilatation of the subarachnoid space only over the ipsilateral frontal lobe associated with compensatory bossing of the frontal bone. Ten of 14 patients with lambdoid deformities had bilateral enlargement of the subarachnoid spaces suggesting brain atrophy and an underlying motor delay accounting for the position-induced skull changes. The findings suggest that focal hydrodynamic mechanisms are involved in the compensatory skull changes seen in craniosynostosis.

Atrophy↗
PubMed2003

Early neuromotor behavior in craniosynostotic rabbits.

OBJECTIVE: Clinical studies have shown both abnormal and normal mental and psychomotor development in patients with craniosynostosis. However, a number of confounding variables make study comparisons difficult. For these reasons, the present study describes early neuromotor development in an homogeneous rabbit model of craniosynostosis. DESIGN: Fifty-three newborn New Zealand white rabbit kits were used: 13 were wild-type, normal control rabbits; 23 had delayed-onset coronal suture synostosis (onset is approximately 57 to 74 days post conception); and 17 had early-onset coronal suture synostosis (onset is approximately 21 to 25 days post conception). All rabbits were observed individually and blindly in an open field, daily for 2 minutes, from birth through the first 14 days of life. The first day of emergence of 10 different mature behaviors and developmental events (in developmental order of appearance: falling, righting, cliff avoidance, first sign of fur, body elevation, head elevation, circling, dragging, eye opening, and hopping) was recorded for each kit. Daily activity levels (grid crossing), and body weights were also recorded. RESULTS: Significant group (p <.05) differences were observed in 9 of 11 measures. Both synostosed groups had significantly (p <.05) accelerated onset of behavior in 8 of 9 measures, compared with wild-type controls. The early-onset synostosis group had significantly (p <.05) accelerated onset in five of eight measures, compared with wild-type controls, and three of eight measures, compared with the delayed-onset synostosis group. CONCLUSIONS: Synostotic rabbits showed precocious neuromotor development possibly through frontal lobe constrictions and altered brain activity from increased intracranial pressure, although primary genetic effects cannot be ruled out.

Animals↗
PubMed2005

Intracranial volume in patients with nonsyndromal craniosynostosis.

OBJECT: In recent years, comparisons between intracranial volumes (ICVs) in patients with craniosynostosis and healthy patients have given variable results, leading to questions regarding the validity of the normal reference material and the comparability of the measurement techniques. In this study, ICVs in patients with nonsyndromal craniosynostosis without previous surgical intervention were compared with the ICVs of a normal population of European descent determined using the same method for each group. METHODS: Determination of ICV was based on measuring the area of intersection in each computerized tomography slice. For comparisons the ICV measurements for each patient were standardized with regard to age and sex by expressing them in terms of the standard deviation score. Only the group of boys with metopic synostosis had a tendency toward smaller ICV than did healthy boys (p = 0.04). Partitioning the male metopic data into age groups younger and older than 7 months of age revealed that the younger children had normal ICVs, whereas the older children had, on average, smaller ICVs (p = 0.02). Both the female sagittal synostosis and the male unilateral coronal synostosis groups had larger than normal ICVs, both with a probability value less than 0.001. CONCLUSIONS: No evidence was found that the ICVs of patients with nonsyndromal craniosynostosis are smaller than those of normal children, except for boys older than 7 months of age with metopic synostosis. This finding may have implications for the timing of surgical intervention for these patients. The indications are that interventions should be focused less on ICV and more on normalizing craniofacial shape and promoting normal development.

Aging↗
PubMed2005

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families.

OBJECT: The origins of both sagittal synostosis (scaphocephaly) and metopic synostosis (trigonocephaly) remain unclear. Genetic and environmental factors probably play a role. Twin and family data of patients with these conditions are presented. METHODS: Records of 860 patients with scaphocephaly and 394 with trigonocephaly were examined for prevalence of twin birth and family history. Concordance rates of disease in monozygotic (MZ) and dizygotic (DZ) twins were compared. A family history of disease was present in 5.7% of children with scaphocephaly and in 6.8% with trigonocephaly. The frequency of twins was 4.2% in sagittal synostosis and 6.8% in metopic synostosis, which is higher than in the normal population. Twenty-eight of 38 twin pairs with a scaphocephalic proband were identified to be DZ and 10 were confirmed to be MZ (MZ/DZ ratio 0.36). Twenty of 27 twin pairs with trigonocephaly were DZ and seven were MZ (MZ/DZ ratio 0.35). Concordance rates were higher in the MZ group, 30% for scaphocephaly and 43% for trigonocephaly (chi2 = 14.4091, p = 0.0001). There was a strong prevalence of boys, with a frequency of 79.1% with scaphocephaly and 75.8% with trigonocephaly. Twinning was more frequent among affected boys in both groups. CONCLUSIONS: A midline craniosynostosis is more likely to develop in twins compared with singletons. A genetic component is supported by the higher risk in MZ twins. The presence of an environmental component is reinforced by the high rate of twinning, the normal MZ/DZ ratio, and a less than 100% concordance rate in MZ twins.

Child↗
PubMed2004

[Complex craniofacial synostoses].

BACKGROUND: Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities. MATERIAL AND METHODS: On the basis of relevant literature, we present a review of syndromal craniofacial synostosis. RESULTS: Phenotypically, the complex craniofacial syndromes have many similarities. Synostosis of the sutures of the cranial vault can result in a variety of skull deformations, depending on the sutures involved, the sequence of premature closure, and the time of closure. Synostosis of the sutures in the skull base and facial skeleton leads to shallow orbits, exophthalmus, hypertelorism, midface retrusion, and prognathia. INTERPRETATION: Precise diagnosis of complex craniofacial syndromes may be difficult solely on the basis of a clinical examination. However, several of the most common syndromes are caused by mutations in genes that code for fibroblast growth-factor receptors. Children with a suspected complex craniofacial syndrome should be referred to genetic testing.

Acrocephalosyndactylia↗
PubMed2004

Craniosynostosis.

Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformational plagiocephaly. In infants with lambdoid synostosis, the posterior bossing is in the parietal area contralateral to the flat part of the head. Deformational plagiocephaly causes frontal bossing ipsilateral to the flat part of the head. In infants with lambdoid synostosis, the ear is displaced posteriorly toward the fused suture. In infants with deformational plagiocephaly, the ear is displaced anteriorly. Isolated sagittal synostosis is the most common type of craniosynostosis. Of the more than 150 craniosynostosis syndromes, Crouzon's disease and Apert's syndrome account for the majority of cases. The diagnosis of craniosynostosis relies on physical examination, plain radiography, and computed tomography. Untreated progressive craniosynostosis leads to inhibition of brain growth, and an increase in intracranial and intraorbital pressure. Infants should be evaluated as soon as they are diagnosed.

Cranial Sutures↗
PubMed2004

[The correction of fronto-orbital deformity in infant craniosynostosis--a one year experience].

OBJECTIVE: To evaluate the correction of fronto-orbital deformation in infant craniosynostosis and to discuss the timing of treatment and surgical technique. METHODS: Eleven consecutive patients with craniosynostoses underwent bilateral fronto-orbital osteotomies and advancement via coronal approaches. There were two females and 9 males with an age range from 6 to 9 months. Among the patients, six had trigonocephaly secondary to metopic synostosis, two had non-syndromic plagiocephaly secondary to unilateral coronal synostosis, one had turricephaly secondary to multi-sutural synostosis and two patients had brachycephaly due to syndromic synostosis (Apert syndrome and Saethre-Chotzen syndrome). RESULTS: The shape of forehead, bilateral orbit and bilateral temples in all patients markedly improved with 2-11 months follow-up. There were not obvious complications except that the unilateral parietal bossing happened to the child with turricephaly postoperatively. CONCLUSIONS: Satisfactory results show that fronto-orbital advancement is safe and effective way to correct frontal and orbital retrusion secondary to craniosynostosis.

Craniosynostoses↗
PubMed1977

Limb anomalies in chromosomal aberrations.

This survey shows that there are at least 6 autosomal and 2 gonosomal aberrations which may produce specific types of limb anomaly in 30%-80% of cases. The "expressivity" of these anomalies covers a wide range within the morphogenetic pattern. No entirely specific malformation type is seen. The most unusual malformation, aplasia of the thumbs with proximal synostosis of the 4th aand 5th metacarpals, is seen in 13q- (13r) but the precise cytogenetic basis is not clear. Aplasia of the thumb associated with synostosis of the 4th and 5th metacarpals was occasionally described before (unilateral [105], bilateral [106] while synostosis only (V or Y shaped) may be due to a dominant [107] or an X-linked recessive gene [108]. Reduction malformations limited to radial heminelia have been noted in 4q- (4r) and in trisomy 18. Although the number of cases is still small the pattern is similar to that of thalidomide embryopathy, radial hemimelia (AD, 17910), cardiodigital syndromes (AD, 14290), and even Fanconi panmyelopathy (AR, 22790). It ranges from hypoplasia of the thenar muscles and thumb to pseudophocomelia which should be clearly distinguished from phocomelia because of the absence of the thumb and frequently of the 2nd and 3rd fingers. Nothing has to be added to the teratologic series published by Müller [58] and, more recently, Willert and Henkel [109], but the distribution of the various manifestations may diverge. Asymmetry in 4q- (4r) is noteworthy. Postaxial polydactyly which is noted in trisomy 13 and trisomy of the terminal portions of the long arm of No. 13 is as variable in distribution and morphology as is observed in families in which the gene (AD, 17420) is transmitted. The question cannot yet be answered whether infrequent anomalies of the limbs which do not fit into the morphologic pattern of these types, eg postaxial polydactyly in + 18 or absence of the radius in + 13 are random. Syndactyly of the 3rd and 4th but also of other digits is a frequent but variable anomaly in triploidy. It is very similar to hereditary zygodactyly (AD, 18590). Peripheral hypoplasia of several digits accompanied by onychodysplasia seems to be a frequent anomaly in 9p+ syndrome. It is similar to that seen in a syndrome with mental deficiency, peculiar facies, and stunted growth [110] in which no chromosomal aberration has been found up to the present. Dysostoses have been frequently noted in gonosomal aberations. Brachymetopodia in XO females maybe confused with pseudo-pseudohypoparathyroidism (XR, 30080) or brachydactyly type E (AD, 11330) when only the lateral metacarpals and/or metatarsals are shortened. However, further studies are needed in order to delineate these syndromes on the basis of different frequencies and radiologic patterns. The radioulnar synostosis noted in cases with supernumerary X chromosomes cannot be distinguished from the inherited anomaly (AD, 17930), but associated anomalies of the hand are uncommon.

Child↗
PubMed1978

[Effect of different types of sports on skeletal growth in child, adolescent and young sportsmen].

The work represents a theoretical review on the influence of various kinds of sport on the locomotorium. There exists a great discrepancy on how sport influences growth and synostosis in bones. The work from the Department of Normal Anatomy of the First Medical Institute, Leningrad is dedicated to the effects of various kinds of sport on the skeleton of young sportsmen and summarizes the results of the investigations performed. It is demonstrated that different kinds of sport affect differently the process of synostosis in tubular bones. The influence depends on the character of bones involving in the given kind of sport and on the character of physical loading. Thus, the process of synostosis depends not only on genetic factors, but also on social ones which include physical culture. Despite a great number of works dedicated to the study how different kinds of sport influence growth and synostosis of bones, regularities of the process remain to be clarified. Further investigations are needed.

Adaptation, Physiological↗
PubMed1978

[Familial mesomelial dwarfism (Nievergelt syndrome)].

Familial mesomelic dwarfism was first described in 1944 by K. NIEVERGELT, who reported on a father and 3 sons by 3 different mothers who had shortening of the middle segment limbs. in the present study the family described by NIEVERGELT in 1944 is reevaluated and the mode of inheritance investigated over a period of 3 generations. Six patients with mesomelic dwarfism were found out of 43 family members. Two patients, a son of the first patient with mesomelic dwarfism and his son, were seen at our institution. Both presented a rare deformity-combination of the upper and lower extremities. In the upper extremities radio-ulnar synostosis, asymmetrically shaped elbow joints, subluxations of the radial head and a deficient supination capacity of the forearm were diagnosed. The deformities were nearly symmetrical, but a slight predilection for the left forearm was noted. In the lower extremities atypical club-feet with supination of the forefeet, shortening of tibia and fibula and marked synostosis of tarsal and metatarsal bones were seen. The legs were rhombic and supination and pronation of the forefeet were severely reduced. Synostosis of the tibia and fibula and deformities of the toes were found in both patients. The mode of inheritance was considered to be autosomal dominant with high penetrance. It is concluded that familial mesomelic dwarfism is an autosomal dominant disease of the upper and lower limbs with atypical club-feet, marked radio-ulnar, tibia-fibular and tarsal synostosis and deformities of the elbow joints.

Chromosome Aberrations↗
PubMed1995

[The posterior part of the skull. Classification of dysmorphism. Original treatment: turned biparietal flap transposition].

The deformation of the posterior part of the skull (occipito-vertebral region), induced directly or indirectly, occurs in numerous pathological situations. Its significance is frequently overlooked. Lesions of the cranial content, alterations of the lambdoid suture or other premature synostosis, abnormal constraint related to posture or to muscular activity can modify the posterior curvature of the skull, generally flattening it. The authors propose a classification based on three points: -Intracranial pathology: alterations of the brain or CSF fluid can induce either insufficient (microencephaly) or excessive (hydrocephalus, Dandy Walker or Arnold Chiari malformations) expansion. -Bone pathology: craniosynostosis: sagittal synostosis (scaphocephaly) induces a bulging and coronal synostosis a flatness of the posterior skull. Bilateral premature lambdoid synostosis (pachycephaly) produces total flatness of the back of the skull. -Extrinsic pathology: dysmorphism is often asymmetrical and results from extracranial mechanical application dysfunction such as inborn torticollis, cervical spine pathology (Klippel-Feil syndrome), or prolonged decubitus during the first year of life. The authors describe a personal technique for correcting this dysmorphism: the turned biparietal flap transposition. The back of the skull is remodelled (either asymmetrical or bilateral flatness), and patients with no need for a helmet can lie on their backs immediately after the operation.

Child↗
PubMed1997

[The posterior cranium and its dysmorphisms].

The deformation of the posterior part of the skull (occipito-vertebral region) induced directly, occurs in numerous pathological situations. Its significance is frequently overlooked. Lesions of the cranial content, alterations of the lambdoid suture or other premature synostosis, abnormal constraint related to posture or to muscular activity can modify the posterior curvature of the skull, generally flattening it. The authors propose a classification based on three points: intracranial pathology, bone pathology and extrinsic pathology. Concerning intracranial pathology, alterations of the brain or CSF fluid can induce either insufficient (microencephaly) or excessive (hydrocephalus, Dandy Walker or Arnold Chiari malformations) expansion. Concerning bone pathology, sagittal synostosis (scaphocephaly) induces a bulging and coronal synostosis a flatness of the posterior skull. Bilateral premature lambdoid synostosis (pachycephaly) produces total flatness of the back of the skull. Concerning extrinsic pathology, dysmorphism is often asymmetrical and results from extracranial mechanical application dysfunction such as inborn torticollis, cervical spine pathology (Klippel-Feil syndrome), or prolonged decubitus during the first year of life. The different surgical procedures are described and the authors describe a personal technique for correcting this dysmorphism: the turned biparietal flap transposition. The back of the skull is remodelled (either asymmetrical or bilateral flatness), and patients with no need for a helmet can lie on their backs immediately after the operation.

Craniotomy↗