Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003638:Deafness / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008437:Maxilla / Q000002:abnormalities; D009295:Nasal Bone / Q000002:abnormalities; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014960:X Chromosome