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At least 613 records · Page 34Linked to original sources
PubMed1994

Anatomy and significance of the temporal fat pad in Apert syndrome.

Abnormal temporal region anatomy in Apert syndrome described in the literature includes inferior and lateral displacement of the middle cranial fossa, effacement of the temporal fossa, and thinning of the temporalis muscle. Four patients with Apert syndrome were noted to have hyperplasia of the bilateral superficial temporal fat pads, which could be contoured surgically. A case is presented with reformatted three-dimensional computed tomography (3-D CT) scans with intraoperative documentation of increased temporal fat as compared to normal controls.

Acrocephalosyndactylia↗
PubMed1994

Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes.

The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.

Acrocephalosyndactylia↗
PubMed1995

Pfeiffer syndrome: a clinical review.

The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.

Acrocephalosyndactylia↗
PubMed1995

Spinal anomalies in Pfeiffer syndrome.

Review of the spinal radiographs of a consecutive series of 11 patients with Pfeiffer syndrome presenting to the Australian Craniofacial Unit was performed. The prevalence of cervical spine fusions was high, and the pattern of fusion complex. Isolated anomalies were evident at lower levels, including two cases of sacrococcygeal eversion. Spinal anomalies occur more frequently in the more severely involved cases of Pfeiffer syndrome emphasizing the generalized dysostotic nature of this condition.

Acrocephalosyndactylia↗
PubMed1995

Spatial dysmorphology of the foot in Apert syndrome: three-dimensional computed tomography.

Computer assisted medical imaging was used to define the spatial dysmorphology of the foot in three patients with Apert syndrome and to correlate that dysmorphology with ambulation and footwear. Thin slice (2 mm), abutting, high resolution axial computed tomography (CT) foot scans were obtained. The CT data were post processed, using Analyze, to generate three-dimensional surface shaded and volumetric reformations. The reformatted images were evaluated by a bone and joint radiologist to identify abnormalities of bone shape, size, and orientation, of joint morphology, and of the foot as a whole. Five consistent findings were observed among the three pairs of feet: (1) anomalous great toes with phalangeal and metatarsal pathology; (2) simple syndactyly of toes 2-5; (3) fusions between matatarsals; (4) tarsal coalitions; and (5) limitations in commercial footwear. One patient underwent bilateral fifth metatarsal wedge osteotomies to facilitate the wearing of shoes. The dysmorphology of the Apert foot is a combination of congenital malformations and postnatal deformations, secondary to progressive synostosis. Prophylactic foot surgery may be indicated in Apert patients to facilitate shoe fitting.

Acrocephalosyndactylia↗
PubMed1996

Extradural deadspace after infant fronto-orbital advancement in Apert syndrome.

Infant fronto-orbital advancement is presently a management cornerstone of the craniosynostosis in Apert syndrome. This procedure is based on the premise that the expanding brain rapidly advances in support of, and to remodel, the new frontal facade. This series of infant patients with Apert syndrome undergoing fronto-orbital advancement with early postoperative computerized tomography assessment reveals a large extradural deadspace persistent through the first postoperative week, not obliterated consistently until the fourth week. Early deadspace effacement results from expansion of the prefrontal subarachnoid space, without any significant change in size or shape of the frontal brain substance or ventricles. Brain growth or expansion was particularly slow with brain shape distortions still evident at late follow-up.

Acrocephalosyndactylia↗
PubMed1996

Audiologic and otologic characteristics of Pfeiffer syndrome.

OBJECTIVE: To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome. DESIGN: Retrospective and prospective study design. SETTING: A pediatric tertiary care hospital. SUBJECTS: Nine patients-ranging in age from 2 to 12 years. METHOD: Hearing levels and middle ear function were assessed using standard procedures. Otoscopy was also conducted. Computerized tomography (CT) scans of the temporal bone were obtained to study outer, middle, and inner ear anatomy. RESULTS: Hearing loss was present in eight of the nine patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and one had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings showed stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With one exception, inner ear anatomy was normal. CONCLUSION: Otologic malformations and hearing loss are features of Pfeiffer syndrome. Major factors contributing to hearing loss were anatomic abnormalities of the external auditory canal and middle ear, which can be identified by computerized tomography. Otitis media was also present and may have caused or contributed to the hearing loss. We recommend that the computerized tomographic study, which is often used to evaluate and plan treatment for the craniofacial skeleton, be extended to include a thorough evaluation of otologic structures in patients with Pfeiffer syndrome.

Acoustic Impedance Tests↗
PubMed1997

Dental development in Apert syndrome.

OBJECTIVE: Apert syndrome has been extensively studied and described. However, an area that has not been studied is the dental development of these individuals. The purpose of this study was to evaluate the development of the dentition and compare it with that of unaffected children. There appears to be clinical observations indicating delayed eruption of the permanent teeth in the Apert child. METHODS: This retrospective study examined all Apert syndrome patients from four craniofacial centers who had a panoramic radiograph taken before the age of 16 years. Thirty-six individuals, 19 boys and 17 girls ranging in age from 4.1 to 15.8 (mean = 9.3) years were examined. The seven left mandibular permanent teeth, second molar to central incisor, were rated on an eight-stage scale (A-H) using methods described by Demirjian and Goldstein (1976). The stage of each tooth was converted to the corresponding numeric value, and then all seven values were added to obtain a dental maturity score, which corresponded to a dental age, based on the sample of 4500+ normal children of the Demirjian et al. study. The dental age and chronologic age were length of delay was also determined. RESULTS: Thirty-one of 36 individuals had a dental age lower than their chronologic age. Compared to the normal sample, the mean developmental dental delay was 0.96 years (p < .001). The range in delay was 0.5 years advanced to 2.9 years delayed. There was a positive correlation to increased age with greater delay in dental development (p < .05). CONCLUSION: Our study confirmed our clinical impressions: The results showed a mean developmental delay of 0.96 years, with a trend of increasing delay with increased age. This positive correlation found between increased age and increased delay parallels the general growth of Apert children, with a greater degree of delay as the child grows older.

Acrocephalosyndactylia↗
PubMed1997

Airway management in children with craniofacial anomalies.

Craniofacial anomalies (CFA) predispose children to airway obstruction. A retrospective study was conducted to describe airway intervention required to manage patients with craniofacial syndromes and diseases involving the midface and mandible (i.e., Pierre Robin, Apert, Treacher Collins, Saethre-Chotzen, CHARGE, Nager, Stickler, Goldenhar, and Pfeiffer). The type of airway intervention, duration of intervention, and associated physical and medical conditions were evaluated. One hundred nine patients had charts available for review and met inclusion criteria. Sixty-five of these patients required airway management, most commonly in the first month of life, ranging from positioning to tracheotomy. Nineteen patients required a tracheotomy. Associated medical conditions and feeding difficulties were associated with airway obstruction. This study evaluates factors that predispose children with CFA to have airway problems that need treatment, as well as the types of airway management that are necessary.

Acrocephalosyndactylia↗
PubMed1997

Titanium mesh and bone dust calvarial patch during cranioplasty.

A technique of filling calvarial defects using bone dust reinforced with titanium Micro Mesh (Leibinger) was investigated using plain x-ray films and computed tomography (CT) in seven consecutive patients (age range, 7-21 years). The aim of our study was to assess whether, in the presence of the titanium, bone dust harvested with a power burr promotes persistent ossification that is comparable with adjacent bone. The mesh was localized by standard skull plain x-ray films, and orthogonal CT scans were obtained at between 9 and 18 months post-operatively. An ultrahigh-resolution algorithm was used to detect neoossification on either side of the Micro Mesh (1-mm collimation, 330-mA and 120 KV(p) at the center of 400 HU, and window width of 2000 Hu). The mesh induced minimal streak artifact. Virtually no new bone formation was seen. It appears that bone dust was completely reabsorbed in this patient group even in the presence of semi-rigid fixation.

Absorption↗
PubMed2001

Intracranial migration of halo fixation pins: a complication of using an extraoral distraction device.

OBJECTIVE: Distraction osteogenesis is a well-accepted technique in the treatment of patients with hypoplastic craniofacial components. Complications of distraction osteogenesis are well described in the literature. We describe a complication of using an external distraction device in a 9-year-old girl with Pfeiffer. INTERVENTION AND RESULTS: A modified Lefort III osteotomy was performed for maxillary hypoplasia with application of an external distraction halo device by a pediatric neurosurgeon. A postoperative computed tomography (CT) scan showed 0.5-cm skull penetration of the cranial pins. The pins were repositioned and the patient was followed up on a regular basis until discharge from the hospital. At 3-week follow-up, a CT scan of the head showed migration of the pins 1.5 cm intracranially. The halo was removed and repositioned at a different site. No detectable neurological sequelae from the pin penetration were noted. The patient developed cellulitis at the site of the penetration and was admitted to the hospital for a course of intravenous antibiotics. There were no other complications, and the rest of her treatment course proceeded as planned. A review of the literature on complications of halo usage as well as suggestions for their management in association with distraction osteogenesis is described.

Acrocephalosyndactylia↗
PubMed2001

The dental health and caries-related microflora in children with craniosynostosis.

OBJECTIVE: To compare levels of dental caries, bacterial dental plaque, gingivitis, enamel defects, and caries-related microflora in children with and without craniosynostosis. STUDY GROUP: Fifty-seven children with craniosynostosis and their matched controls. OUTCOME MEASURES: The decayed, missing, and filled teeth and surfaces in both the deciduous (dmfs and dmft) and the permanent dentition (DMFS and DMFT). The plaque and gingivitis scores and developmental enamel defects were also recorded. The caries-related microflora was sampled using an alginate swab and the prevalence of Streptococcus mutans and Lactobacillus and Candida species were recorded. RESULTS: The dmfs (p <.02) and dmft (p <.01) were significantly greater in the control children. The plaque score for the deciduous dentition only (p <.02) and also the gingivitis score for the permanent teeth only (p <.008) in the craniosynostosis group were significantly greater. The total aerobic bacterial count (p <.004), anaerobic count (p <.002), and Candida count (p <.05) were significantly greater in the control group. The proportion of S. mutans both as a percentage of the total anaerobic count (p <.04) and the total streptococcal count (p <.05) was significantly greater in the control group.

Acrocephalosyndactylia↗
PubMed2002

Ultrasound diagnosis of craniosynostosis.

OBJECTIVE: To retrospectively study prenatal ultrasound images of patients with craniosynostosis to determine the extent to which prenatal diagnosis is possible. METHOD: Prenatal ultrasound images of 19 patients with postnatally diagnosed metopic or coronal suture craniosynostosis were retrospectively reviewed. The 26 ultrasound examinations obtained were compared with normal images and tables of gestation. RESULTS: It was not possible to diagnose craniosynostosis in the first trimester. In the second trimester, Kleeblattschädel was diagnosed at 20.5 weeks. A multilobular shape to the skull and diastasis of the frontotemporal suture was identified. In a second child with Kleeblattschädel, the cephalic index was above normal 86.4 (normal range 70 to 86), and the head circumference to abdominal circumference was increased. In the third trimester, the head shape deformation was more obvious. Brachycephaly diagnosis was made in the second trimester. In Crouzon syndrome the hypertelorism was identified at 19.9 weeks. Plagiocephaly was diagnosed at 21.4 weeks. In trigonocephaly the reduced cephalic index was noted at 18.8 weeks. In the third trimester, the deformity was diagnosed in all cases. CONCLUSION: No diagnosis of craniosynostosis was made in the first trimester. In the second trimester, it was possible to diagnose Kleeblattschädel, trigonocephaly, brachycephaly (bilateral coronal suture craniosynostosis), and plagiocephaly (unilateral coronal suture craniosynostosis) in nine of the examinations. In the third trimester and at term, it was possible to diagnose previously listed conditions from six of the seven examinations obtained. Kleeblattschädel was suspected during original examination. A total of 15 examinations of 26 were correctly diagnosed during this investigation.

Acrocephalosyndactylia↗
PubMed2002

A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.

OBJECTIVE: Patients with syndromic craniosynostosis may have associated hearing deficits. A review of hearing loss associated with syndromic craniosynostosis as well as implications of cochlear implantation in the craniosynostosis patients is presented. In the literature, patients with Saethre-Chotzen syndrome have been shown to have conductive or mixed hearing losses. This case report describes a patient with Saethre-Chotzen syndrome caused by a mutation in the TWIST gene who exhibits a severe to profound sensorineural hearing loss.

Acrocephalosyndactylia↗
PubMed2002

Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion.

OBJECTIVE: Critical cellular events at the palatal medial edge epithelium (MEE) occur in unperturbed mammalian palatogenesis, the molecular control of which involves a number of growth factors including transforming growth factor beta 3 (TGF beta 3). Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation. We report the relative expression of these genes in human palatogenesis. METHODS: The expression of the IgIIIa/b and IgIIIa/c transcript isoforms of FGFR2 and the proteins FGFR1, FGFR2, and FGFR3 was studied in situ throughout the temporospatial sequence of human palatal shelf fusion and correlated with the expression of TGF beta 3. In addition, the immunolocalization of the ligand FGFs 2, 4, and 7 was undertaken together with the intracellular transcription factor STAT1, which is activated by FGFR signaling. RESULTS: FGFRs are differentially expressed in the mesenchyme and epithelia of fusing palatal shelves, in domains overlapping those of their ligands FGF4 and FGF2 but not FGF7. Coexpression is seen with TGF beta 3, which is implicated in MEE dynamics and FGF and FGFR upregulation, and STAT1, an intracellular transcription factor that mediates apoptosis. CONCLUSIONS: The coregulation of molecules of the FGFR signaling pathway with TGF beta 3 throughout the stages of human palatal fusion suggests their controlling influence on apoptosis and epitheliomesenchymal transdifferentiation at the MEE. Experimental evidence links FGFR2-IgIIIa/b loss of function with palatal clefting, and these correlated data suggest a unique pathological mechanism for Apert cleft palate.

Acrocephalosyndactylia↗