Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: A new distinct entity

Autor: Canún, Sonia, Guevara-Sanginés, E.G., Elvira-Morales, A., Sierra-Romero, Ma. del C., Rodríguez-Asbun, H.
Zdroj: American Journal of Medical Genetics. Part A; 30 January 2003, Vol. 116 Issue: 3 p278-283, 6p
Abstrakt: 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. © 2002 Wiley-Liss, Inc.
Databáze: Supplemental Index