A 23-year old woman with narrow nose, maxillary hypoplasia, cleft lip and palate, hypodontia, dystrophic nails and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination of hair showed longitudinal twisting at irregular intervals, typical of pili torti. Her mother presented only dystrophic nails and hypohidrosis. Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies and cleft lip and palate. In the patients observed, the phenotypical manifestations were different. In fact, the proband showed all the major features of the syndrome, while her mother only onychodysplasia and hypohidrosis. The differential diagnosis between Rapp- Hodgkin syndrome and other forms of ectodermal dysplasia are discussed. Author keywords

Sindrome di Rapp-Hodgkin. Espressivita fenotipica diversa in membri della stessa famiglia

TOMASINI, CARLO FRANCESCO;
1998-01-01

Abstract

A 23-year old woman with narrow nose, maxillary hypoplasia, cleft lip and palate, hypodontia, dystrophic nails and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination of hair showed longitudinal twisting at irregular intervals, typical of pili torti. Her mother presented only dystrophic nails and hypohidrosis. Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies and cleft lip and palate. In the patients observed, the phenotypical manifestations were different. In fact, the proband showed all the major features of the syndrome, while her mother only onychodysplasia and hypohidrosis. The differential diagnosis between Rapp- Hodgkin syndrome and other forms of ectodermal dysplasia are discussed. Author keywords
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1187010
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