title: Craniofacial-deafness-hand syndrome revisited.
abstract: In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome of craniofacial, hand anomalies and sensorineural deafness. The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an antimongoloid slant, a depressed nasal bridge with a button tip and slitlike nares and a small "pursed" mouth. Profound sensorineural hearing loss and ulnar deviation of the hands with flexion contractures of digits three, four and five was evident. The family had another child, a son, two years after the birth of the index case that had the exact manifestations as his mother and sister. Because of three affected family members in two generations and a phenotype of midfacial anomalies and dystopia canthorum resembling Waardenburg syndrome, a search for mutations in the PAX3 gene was undertaken. A missense mutation in the paired domain of PAX3 (Asn47Lys) was detected. We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.
authors.affiliation: Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children's Hospital, Columbus, Ohio 43205-2696, USA. asommer@chi.osu.edu
authors.forename: Annemarie
authors.initials: A
authors.lastname: Sommer
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Bartholomew
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse