Craniofacial-deafness-hand syndrome revisited

Am J Med Genet A. 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • DNA-Binding Proteins / genetics
  • Deafness / genetics*
  • Female
  • Follow-Up Studies
  • Hand Deformities / genetics*
  • Humans
  • Infant
  • Male
  • Mutation, Missense
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors
  • Syndrome
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • Paired Box Transcription Factors
  • Transcription Factors
  • Pax3 protein, mouse