title: Cerebro-facio-thoracic dysplasia: expanding the phenotype.
abstract: We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas of the optic nerve, ptosis, small conical teeth and severe left-sided talipes. He also has hypermobile joints, especially in his hands and anterior subluxation of the shoulders. The second patient has hypodensity of the grey matter on magnetic resonance imaging, which is the second report of this finding in cerebro-facio-thoracic dysplasia. In addition, he has hypoplasia of the corpus callosum. These cases illustrate the expanding phenotype of this condition, and support the hypothesis that this is an autosomal recessive condition.
authors.affiliation: Academic Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, University of Manchester, Manchester, UK Hacettepe University Faculty of Medicine, Department of Pediatrics, Clinical Genetics Division, Ankara, Turkey.
authors.forename: Deirdre
authors.initials: D
authors.lastname: Cilliers
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroglu
authors.forename: Eda
authors.initials: E
authors.lastname: Utine
authors.forename: Ergül
authors.initials: E
authors.lastname: Tunçbilek
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D013902:Radiography, Thoracic; D013896:Thoracic Diseases / Q000473:pathology*