2. Academic Validation
  3. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness

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.
A Sommer,  T Young-Wee,  T Frye
PMID: 6859126 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.

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