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Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
American Journal of Medical Genetics
|May 1, 1983
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.