Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness

Am J Med Genet. 1983 May;15(1):71-7. doi: 10.1002/ajmg.1320150109.

Abstract

We describe in a mother and her infant daughter a previously unreported syndrome of unusual craniofacial, hand, and digital anomalies. Both mother and child have a flat facial profile, hypertelorism, hypoplastic nose with slit-like nares, and a sensorineural hearing loss. Common radiographic manifestations include small maxilla, absent or small nasal bones, and ulnar deviation of the hands. This is either an autosomal dominant or X-linked trait.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Deafness / genetics*
  • Face / abnormalities*
  • Female
  • Genes, Dominant
  • Hand Deformities, Congenital*
  • Humans
  • Hypertelorism / genetics
  • Infant, Newborn
  • Maxilla / abnormalities
  • Nasal Bone / abnormalities
  • Pregnancy
  • Skull / abnormalities*
  • Syndrome
  • X Chromosome