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Am J Med Genet A ; 116A(3): 278-83, 2003 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-12503107

RESUMO

Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a dysmorphic face. Bondeson and Miles [1993: Am J Med Genet 47:198-212] described a woman with universal congenital hypertrichosis terminalis associated with gingival hyperplasia; the face of this patient was coarse and different from other forms of hypertrichosis described before. We present an 11-year, 6-month-old girl with universal congenital hypertrichosis terminalis, gingival hyperplasia, and a characteristic coarse face resembling the patient described by Bondeson and Miles [1993: Am J Med Genet 47:198-212]. We propose that this type of congenital generalized hypertrichosis terminalis, associated with gingival hyperplasia and a coarse face, is a distinctive new entity.


Assuntos
Anormalidades Múltiplas/patologia , Face/anormalidades , Hiperplasia Gengival/patologia , Hipertricose/patologia , Anormalidades Múltiplas/genética , Criança , Feminino , Humanos , Lactente , Cariotipagem
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