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PubMed1990

Acrofacial dysostosis with ambiguous genitalia.

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.

Abnormalities, Multiple↗
PubMed1992

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1993

Mild mandibulofacial dysostosis in a child with a deletion of 3p.

We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p, 46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostoses, to the 5q31.3-->q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution.

Chromosome Banding↗
PubMed1993

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

Adult↗
PubMed2005

Acrofacial dysostosis type Rodríguez.

The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodríguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodríguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.

Abnormalities, Multiple↗
PubMed2002

Paediatric transcranial surgery: a review of 114 consecutive procedures.

Craniofacial units have a responsibility to collect data, to promote research and training and to carry out audit. We present a review of 114 consecutive transcranial procedures performed in 110 children in our unit over an 8 year period, with particular reference to complications. There were no deaths in this series. Complications included two cases of excessive intraoperative blood loss necessitating a delay in the procedure, and two postoperative infections that required aggressive antibiotic management. Minor complications, delaying hospital discharge, occurred in 13 patients. Within the range of paediatric transcranial procedures performed, the potential for complications is greater for complex osteotomies in syndromic conditions than for single sutural synostosis correction. The transcranial case mix included a relatively small number of craniofacial dysostoses, which contributes to the very low complication rate reported. This report demonstrates that multidisciplinary assessment and planning, adherence to craniofacial surgical principles, shorter operating times and avoidance of high-risk procedures contribute to a low complication rate, and confirms that paediatric transcranial procedures can be safely performed in dedicated centres where there is a multidisciplinary team with appropriate commitment and experience.

Adolescent↗
PubMed2003

Genetic disorders of the skeleton: a developmental approach.

Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases.

Animals↗
PubMed1998

Airway management in children with major craniofacial anomalies.

OBJECTIVES: Delineation of clinical characteristics affecting the airway in a cohort of craniofacially deformed children. What factors differ between patients requiring and those not requiring surgical airway intervention? What factors predispose to the need for tracheotomy? When can decannulation be expected if tracheotomy is required? What interventions aid decannulation? STUDY DESIGN: Five-year retrospective chart review at tertiary center. METHODS: Two hundred fifty-one patients met the following entry criteria: enrollment in the New York University Institute of Reconstructive and Plastic Surgery's Craniofacial Clinic and admission to Tisch Hospital in Manhattan for surgery from 1990 to 1994. Hospital, clinic, and departmental office records were reviewed. All patients had major craniofacial bony anomalies and underwent administration of general anesthesia at least once. RESULTS: Nearly 20% of all children required tracheotomy (47/251). Craniofacial synostosis patients (Crouzon, Pfeiffer, or Apert syndrome) had the highest rate of tracheotomy (48% [28/59]). Mandibulofacial dysostoses patients (Treacher Collins or Nager syndrome) had the next highest rate (41% [28/59]). Patients with oculo-auriculo-vertebral sequence were less likely to undergo tracheotomy (22% [9/41]). Children with craniosynostosis rarely required a surgical airway, unless there was marked associated facial dysmorphism (1% [1/72]). The duration of cannulation was related to the age at tracheotomy in a bimodal distribution. Generally, tracheotomies required before age 4 years remained for several years, whereas those placed after age 4 were removed after several weeks. The presence of a cleft palate correlated with reduced risk for tracheotomy, but the presence of a ventriculoperitoneal shunt correlated with an increased risk for tracheotomy. Procedures selectively used to improve the airway included midface advancement, mandibular expansion, tonsillectomy and adenoidectomy, uvulopalatopharyngoplasty, anterior tongue reduction, and endoscopic tracheal granuloma excision. CONCLUSIONS: The likelihood for surgical airway management is related to specific craniofacial diagnosis. The length of tracheal cannulation is greatest for infants and young children who manifest severe airway compromise, often because of nasal obstruction in combination with other anatomic factors. Early tracheotomy is advocated for these patients to promote optimal growth and development. Choanal atresia is often misdiagnosed in these infants; nasal obstruction is actually secondary to midface retrusion. Staged surgical interventions can allow eventual successful decannulation in nearly all cases of craniofacial syndromes.

Adolescent↗
PubMed1987

Craniofacial infection in 10 years of transcranial surgery.

Infection following transcranial surgery may be devastating. A review of 170 transcranial operations is presented with a focus on postoperative infection and its relationship to patient age, preoperative microbiology, pattern of operation, length of operation, and the use of antibiotic prophylaxis. The overall postoperative infection rate was 6.5 percent, but the infection rate in adults (23.5 percent) was much higher than in children (2.2 percent). Higher infection rates were found in adults with craniofacial dysostoses undergoing lengthy frontofacial advancements which required tracheostomy airway management. The residual frontal extradural dead space following advancement in adults is a sanctuary to infecting organisms from the respiratory tract--especially Pseudomonas transferred from the tracheostomy site into the upper airway and intracranial dead space by ventilation forces. Operating times for patients who became infected were 2 1/2 hours longer than average operating times for transcranial operations. Preoperative microbiology of the craniofacial region was not a good predictor of subsequent infection. Recommendations include operative intervention at an early age, short preoperative hospital stay, antibiotic prophylaxis to include gram-negative cover, surgical measures to either fill or isolate the dead space, and strict tracheostomy care--preferably with the patient being barrier-nursed.

Adolescent↗
PubMed1988

Emotional and behavioral reactions to facially deformed patients before and after craniofacial surgery.

The present experiment investigated whether observers' emotional and behavioral reactions to facially deformed patients could be substantially improved by surgical procedures conducted by well-trained specialists in an experienced multidisciplinary team. Also investigated was the hypothesis that emotional states mediate the effects of physical attractiveness and facial deformity on social interaction. Twenty patients between the ages of 3 months and 17 years were randomly selected from over 2000 patients' files of Kenneth E. Salyer of Dallas, Texas. Patient diagnoses included facial clefts, hypertelorism, Treacher Collins syndrome, and craniofacial dysostoses (Crouzon's and Apert's syndromes). Rigorously standardized photographs of patients taken before and after surgery were shown to 22 "naive" raters ranging in age from 18 to 54 years. Raters were asked to predict their emotional and behavioral responses to the patients. These ratings indicated that observers' behavioral reactions to facially deformed children and adolescents would be more positive following craniofacial surgery. Similarly, the ratings indicated that observers' emotional reactions to these patients would be more positive following surgery. The results are discussed in terms of current sociopsychologic theoretical models for the effects of attractiveness on social interaction. A new model is presented that implicates induced emotional states as a mediating process in explaining the effects of attractiveness and facial deformity on the quality of social interactions. Limitations of the current investigation and directions for future research are also discussed.

Adolescent↗
PubMed2001

The Le Fort III osteotomy: to distract or not to distract?

Treatment of the craniofacial dysostoses (e.g., Crouzon, Apert, Pfeiffer, Saethre-Chotzen syndromes) is critically dependent on the successful advancement of the midface with a Le Fort III procedure. The purpose of this retrospective clinical outcome study was to evaluate a new technique for distracting the Le Fort III procedure and to compare its results in growing children with those of the standard Le Fort III osteotomy. The records of 22 children were reviewed; 10 patients (mean age, 6.5 years) underwent a standard Le Fort III procedure, and 12 patients (mean age, 7.5 years) underwent a Le Fort III distraction procedure. The distraction group included two separate techniques, bilateral buried distraction (n = 2) and halo distraction (n = 10). Preoperative and 2- to 3-month postoperative cephalograms were analyzed. The average horizontal advancement achieved in the standard Le Fort III group was 6 mm, compared with 19 mm of advancement in the distraction group (p </= 0.005). Complications were evenly distributed between the two groups (one infection and one tracheostomy in each group), and the lengths of hospitalization were similar. No documented improvement in sleep apnea was identified in the standard Le Fort III group. However, in the distraction group two patients experienced normalization of sleep studies postoperatively as measured by respiratory disturbance index, and two patients underwent successful decannulation of tracheotomies. For aesthetic reasons, halo distraction was preferred over bilateral buried distraction. With halo distraction the vector of traction is focused in the facial midline, which helps to reposition the concave midface and to provide a more convex facial profile. In growing children, the ideal vector for distraction is determined by the malar position and not by dental occlusion. The amount of overcorrection can be calculated from tables of normal anthropologic data. On this preliminary review, it was concluded that the use of halo distraction, in combination with a modified Le Fort III osteotomy, provided a significantly further forward-positioned midface and seemed to offer a better correction of sleep apnea than did the standard Le Fort III osteotomy.

Cephalometry↗
PubMed2001

New methods for the evaluation and treatment of craniofacial dysostosis-associated cerebellar tonsillar herniation.

Herniation of the cerebellar tonsils may occur in children with craniofacial dysostosis (e.g., Apert, Carpenter, Crouzon, Jackson-Weiss, Pfeiffer, and Saethre-Chotzen syndromes), occasionally, with serious sequelae. Cerebellar tonsillar herniation is probably acquired in children affected with craniofacial dysostosis, raising the question, How should we be screening for this anomaly? This retrospective clinical study was undertaken to review the authors' series of what they believe to be a new surgical treatment for craniofacial dysostosis-associated cerebellar tonsillar herniation and to report their experience with a new screening technique. In an attempt to find a low-cost alternative to the use of routine magnetic resonance imaging for identifying cerebellar tonsillar herniation, the authors instituted sagittal reformatting of three-dimensional computed tomographic scans through the foramen magnum. Scans are considered positive if soft tissue is noted to extend below the foramen magnum, and all positive scans are further evaluated by magnetic resonance imaging with flow studies of the cerebrospinal fluid. These sagittally reformatted scans add no additional cost, and they seem to be highly sensitive in screening for cerebellar tonsillar herniation. Over a 13-month period, five children (one with Apert syndrome; four with Crouzon syndrome) with craniofacial dysostosis-associated cerebellar tonsillar herniation underwent isolated anterior cranial vault remodeling to treat observed brachycephaly (standard neurosurgical posterior decompression was not performed). All patients (mean age, 6 years; range, 2 to 14 years) were without the symptoms typically associated with cerebellar tonsillar herniation. Only those patients who had preoperative and postoperative magnetic resonance imaging scans were included in this review. All patients showed some improvement by the authors' magnetic imaging criteria after anterior cranial vault remodeling. Despite these findings, the authors recommend that until the anterior approach can be further studied, symptomatic children should undergo standard posterior neurosurgical decompression. The authors speculate that the presence of cerebellar tonsillar herniation may be a relative indication for decompressing the cranial vault in the craniofacial dysostoses. In addition, they propose that the descriptive anatomic term "cerebellar tonsillar herniation" be substituted for the misnomer "Chiari malformation" in these children.

Adolescent↗
PubMed2007

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the Treacher-Collins syndrome, the acrofacial dysostoses (including Nager and Miller syndromes), the dysgnathia complex and the auriculo-condylar syndrome. Isolated microtia may also be present with involvement of other facial structures and distant organs. We report here a patient with first and second branchial arch anomalies, born to consanguineous parents. Pertinent physical findings include severe micrognathia, absence of the upper portion of the helices, atresia of the external meati and absence of the middle ear ossicles, mildly down-slanting palpebral fissures and a highly arched palate with a submucous cleft. Discussion of the differential diagnosis highlights the clinical overlap between these conditions. This constellation of findings may represent a more severe manifestation of the auriculo-condylar syndrome or a previously undescribed syndrome.

Adolescent↗
PubMed1984

Weyers acrodental dysostosis in a family.

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

Abnormalities, Multiple↗
PubMed1986

Congenital absence of the inferior rectus muscle.

A case of unilateral congenital absence of the inferior rectus muscle is presented. Absences of extraocular muscles, either singly or in combination, are rare, but isolated reports have been published. The abnormalities have been reported as occurring with increased frequency in craniofacial dysostoses, notably Crouzon's disease. In the case reported here, the abnormality was discovered during planned vertical muscle surgery for a large left hypertropia. Infraplacement of the horizontal recti was performed at a later date. Computerised axial tomography (CAT) scanning confirmed the absence of the inferior rectus. The embryogenesis of the extraocular muscles is briefly discussed.

Adult↗
PubMed1994

The heritability of strabismus.

The etiology of strabismus has long been observed to have a genetic component. Recent advances in genetic methodology may provide insight into the genetic basis for several types of inherited strabismus, including those associated with genetic multisystem disorders such as Moebius syndrome, Prader-Willi syndrome, craniofacial dysostoses, and mitochondrial myopathies. Inheritance of primary forms of strabismus, such as congenital ocular fibrosis, Brown syndrome and Duane syndrome, has been reported, but less is known of the defective genetic sites. The genetic basis for isolated strabismus that clusters in families, such as infantile esotropia syndrome, is also not yet known, but new techniques of molecular biology may now permit linkage detection in these families. By identifying affected families, clinicians will take part in unraveling the genetic basis of hereditary strabismus syndromes.

Female↗
PubMed2001

Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.

OBJECT: Heterogeneous mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause a range of craniosynostosis syndromes. The specificity of the Apert syndrome-affected cranial phenotype reflects its narrow mutational range: 98% of cases of Apert syndrome result from an Ser252Trp or Pro253Arg mutation in the immunoglobulin-like (Ig)IIIa extracellular subdomain of FGFR2. In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses. METHODS: In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues. Both FGFR1 and FGFR3 are normally expressed in the differentiated osteoblasts of the periosteum and osteoid, in domains overlapped by that of FGFR2, which widely include preosseous cranial mesenchyme. Expression of FGFR2, however, is restricted to domains of advanced osseous differentiation in both Apert syndrome- and Pfeiffer syndrome-affected cranial skeletogenesis in the presence of fibroblast growth factor (FGF)2, but not in the presence of FGF4 or FGF7. Whereas expression of the FGFR2-IgIIIa/b (KGFR) isoform is restricted in normal human cranial osteogenesis, there is preliminary evidence that KGFR is ectopically expressed in Pfeiffer syndrome-affected cranial osteogenesis. CONCLUSIONS: Contraction of the FGFR2-IgIIIa/c (BEK) expression domain in cases of Apert syndrome- and Pfeiffer syndrome-affected fetal cranial ossification suggests that the mutant activation of this receptor, by ligand-dependent or ligand-independent means, results in negative autoregulation. This phenomenon, resulting from different mechanisms in the two syndromes, offers a model by which to explain differences in their cranial phenotypes.

Acrocephalosyndactylia↗
PubMed1975

Structural goals in craniofacial surgery.

Major craniofacial abnormalities can be considered as a group for purposes of operative planning. Known normal relations define what is abnormal and indicate goals to be achieved with the craniofacial operative procedures. The principle syndromes with significant facial structural changes amenable to such surgical corrective procedures are craniofacial stenoses, hypertelorism, mandibulofacial dysostoses, median facial clefts, residua of encephaloceles, and trauma. Deformities primarily involve the middle and upper thirds of the face. In planning, abnormal relations and structures must be clearly defined utilizing patient examination, x-rays, dental study models, and photography. Standards of norm indicating goals for the corrective procedure are also based on studies using these tools, data from previous publications, and measurements directly from skulls. Precise measurements about the orbits and maxillary-mandibular relation are the keystone for planning. Soft tissue, nose, and ear alterations are based on already widely known concepts of norm and symmetry. Bony interocular distance, medial intercanthal distance, height and width at the orbital rim of the bony orbits, orbital shape, orbital axis, and orbital volume as determined by measurement with an exophthalmometer are useful in determining what is to be done about the orbits. Cribiform plate level, anterior cranial base, length and contour, and size of the zygomatic arches are important dimension considerations. Paranasal sinus size and location is important. These considerations are essential prior to any major facial structural changes.

Adult↗