Hay-Wells syndrome: a case report.
Hay-Wells syndrome is a rare form of ectodermal dysplasia initially described by Hay and Wells in 1976. It is an autosomal dominant disorder with varying forms of expression featuring congenital abnormalities of the skin, hair, teeth, nails and sweat glands. The present report describes the case of a 17-year old white boy, the son of nonconsanguineous parents, who presented ankyloblepharon filiforme adnatum, ectodermal dysplasia and a cleft palate at birth, which are considered cardinal signs of this syndrome by most authors. We also highlight the importance of implementing multidisciplinary follow-up of these patients.
Rosa
Dário Júnior de Freitas
DJ
Universidade Federal de Juiz de Fora, MG, Brasil. dariojfr@hotmail.com <dariojfr@hotmail.com>
Machado
Ronaldo Figueiredo
RF
Martins Neto
Marcelino Pereira
MP
Sá
Alessandra Almeida Montenegro de
AA
Gamonal
Aloísio
A
D000015:Abnormalities, Multiple; D000293:Adolescent; D002972:Cleft Palate; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008297:Male; D009264:Nails, Malformed; D010641:Phenotype; D013577:Syndrome