American Journal of Medical Genetics · 1991 · 65 citations · 4 references
MedicinePsychiatryAnatomic PathologyPediatric Hand DisordersShort Stature GeneticsSyndromic Craniofacial Disorders
In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.
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John M. Opitz · American Journal of Medical Genetics · 1985 · 50 citations
Medicine, Cardiology, Pediatrics +13