title: A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
abstract: Campomelic dysplasia (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, hypoplastic scapula, costa defect, narrow thorax and pes equinovarus. Campomelic dysplasia occurs with heterozygous mutations in the SOX9 gene in the 17q24 chromosome. The main findings of our four-day old patient included typical facial features, risomelic extremity shortness, angular bending in the long bones of bilateral lower extremities and pes equinovarus. On direct graphies, costa defect and scapula hypoplasia were noted. We showed a missense mutation (c.473C>T [p.A158V]) in the SOX9 gene which had not been reported before in our patient who had the typical clinical findings of CD. The family of the patient was informed about potential future pathologies of this disease and received genetic counseling.
authors.affiliation: Medical Genetics, Intergen Genetic Diseases Diagnostic Center, Ankara, Turkey.
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.affiliation: Yale University School of Medicine, Child Study Center, New Haven, Connecticut, USA.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Yüksel
authors.affiliation: Pediatrics Division of Neanatology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey.
authors.forename: Esin
authors.initials: E
authors.lastname: Yalınbaş
authors.affiliation: Institute of Human Genetics, Freiburg University Hospital, Freiburg, Germany.
authors.forename: Gerd
authors.initials: G
authors.lastname: Scherer
keywords: Genetic counseling; SOX9 mutation; campomelic dysplasia