Literature DB >> 6859126

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

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.

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Year:  1983        PMID: 6859126     DOI: 10.1002/ajmg.1320150109

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Authors:  Alona Gad; Mercy Laurino; Kenneth R Maravilla; Mark Matsushita; Wendy H Raskind
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

  1 in total

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