Rapp-Hodgkin syndrome: report of a Brazilian family.
We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.
Rodini
E O
EO
Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Bauru, Brazil.
Freitas
J A
JA
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree; D013577:Syndrome