| Literature DB >> 6859126 |
A Sommer, T Young-Wee, T Frye.
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.Entities:
Mesh:
Year: 1983 PMID: 6859126 DOI: 10.1002/ajmg.1320150109
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299