Pediatric Dermatology · 1990 · 25 citations · 21 references
Life SciencesGeneticsGenetic CounselingHuman GeneticsMedical GeneticsDysplasiaEctodermal DysplasiasGenetic DisordersGenetic SyndromesEctodermal Dysplasia SyndromesMultidisciplinary Team ManagementRapp-hodgkin Syndrome
Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies, cleft lip or palate, poor dentition, poor hair growth, dystrophic nails, and hypohidrosis, and hypospadias in boys. Since the original report in 1968, fewer than 20 other patients have been described. We report a new sporadic case, a 12-year-old boy who had erythrodermia and scaling skin at birth, and later developed most of the symptoms and findings previously described.
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Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
Angus Clarke, David Phillips, Ryan Brown et al. · Archives of Disease in Childhood · 1987 · 273 citations · Full text
Medicine, Endocrinology, Pediatrics +15
Ectodermal dysplasias: a clinical and genetic study
John Burn · Journal of Medical Genetics · 1985 · 194 citations · Full text