Article
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.
American journal of medical genetics. Part A - 1 Oct 2005
Slavotinek Anne M, Tanaka June, Winder Alison, Vargervik Karin, Haggstrom Anita, Bamshad Michael
Abstract excerpt
We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an...
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