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PubMed1982

The Antley-Bixler syndrome.

Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.

Abnormalities, Multiple↗
PubMed1985

Hydrocephalus and mental retardation in craniosynostosis.

We prospectively studied craniosynostosis, regardless of neurologic status, by cranial computed tomography or psychometric testing in 56 children. None of the 27 children with simple craniosynostosis (single or multiple suture involvement) had evidence of hydrocephalus on CT scan. Of the 24 patients with simple craniosynostosis who underwent psychometric testing, 17 were of average intelligence; six were in the low average range. The single mentally retarded child had a history of severe perinatal asphyxia. Hydrocephalus occurred more frequently (five of 23 cases) in children with complex craniosynostosis syndromes, including Pfeiffer syndrome, Crouzon syndrome, and kleeblattschädel deformity. More striking than hydrocephalus, however, was the finding of dysmorphic ventricular dilation in eight patients, including the three children with Apert syndrome and four with Crouzon syndrome. Nineteen of the 25 children with complex craniosynostosis syndromes receiving psychometric testing were of normal intelligence. Four children with borderline normal intelligence had either hydrocephalus or ventricular dilation. The two children with mental retardation were sisters with Crouzon syndrome whose family included other retarded individuals. This study indicates that the incidence of hydrocephalus and mental retardation in craniosynostosis is lower than reported previously.

Acrocephalosyndactylia↗
PubMed1987

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.

We report two infants with bone deformities and multiple fractures reminiscent of osteogenesis imperfecta, but also having ocular proptosis with orbital craniosynostosis, hydrocephalus, and distinctive facial features. Both infants were normal at birth, but multiple compression fractures of the long bones were noted shortly thereafter, followed by extensive demineralization and culminating in recurrent diaphyseal fractures of the weight-bearing bones before the first birthday. The striking similarity of both the distinctive dysmorphic features and the unique pattern of fractures in two unrelated individuals suggests that this is a previously unrecognized form of osteogenesis imperfecta. Despite the craniosynostosis and hydrocephalus, intellectual performance is unimpaired in both individuals. Bone biopsy in one patient revealed decreased bone volume and increased bone resorption without compensatory new bone formation. Extensive laboratory investigations have not identified a cause, nor have they clarified pathogenesis; further elucidation will require the identification and study of new cases.

Craniosynostoses↗
PubMed1998

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.

Craniosynostoses↗
PubMed1999

Transvaginal Doppler assessment of fetal intracranial venous flow.

OBJECTIVE: To investigate physiologic blood-flow-velocity waveform patterns of the fetal cerebral venous system during normal pregnancies by transvaginal Doppler studies and to evaluate cases with abnormal venous-flow patterns. METHODS: Internal cerebral veins and the three dural sinuses, those of the superior sagittal sinus, vein of Galen, and straight sinus, were examined in normal cephalic-presenting fetuses of 20-40 weeks' gestation. For analysis, the venous index was defined as maximum minus minimum velocity divided by maximum velocity. Different cases with intracranial abnormalities were evaluated with emphasis on abnormal venous blood-flow patterns. RESULTS: Internal cerebral veins had pulsatile patterns with a venous index of 0.22 in 47.6% of fetuses, whereas all fetuses had pulsations in the dural sinuses. The vein of Galen had a significantly lower venous index (0.31) than the superior sagittal sinus (0.39) and the straight sinus (0.36), indicating that the amplitude of the intracranial venous pulsation might increase as the flow runs from the periphery toward the proximal portion. Significant regression lines of venous index were obtained, indicating the stability of the pulsation during pregnancy. A flat pattern of superior sagittal sinus flow was found in three cases of hydrocephalus and one of craniosynostosis. CONCLUSION: We showed the normal patterns of fetal cerebral venous blood-flow velocity and the abnormal patterns which might be associated with increased intracranial pressure. Doppler assessment of the intracranial venous system enabled us to evaluate intracranial abnormalities accompanied by increased intracranial pressure that might have prognostic clinical importance.

Blood Flow Velocity↗
PubMed2000

Syndromes involving craniosynostosis and midface hypoplasia.

This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's, Crouzon's, Saethre-Chotzen, and Carpenter's. Clinical characteristics and genetic defects are discussed. A general approach to surgical management is outlined.

Acrocephalosyndactylia↗