Data di Pubblicazione:
1995
Citazione:
Aplasia cutis congenita and limb abnormalities: A familial case / S. Menni, D. Imondi, G. Galbiati. - In: GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA. - ISSN 0392-0488. - 130:3(1995), pp. 201-203.
Abstract:
The authors describe a case of aplasia cutis congenita associated with limb abnormalities. In addition to a vast cicatricial area present in the median area of the scalp, a one-year-old boy presented hands with short fingers and hypoplasia of the distal phalanges; the feet, shaped like golf clubs, also had short, 'sausage-like' toes. No other abnormalities or chromosome defects were observed. Similar alterations were present in the father and paternal grandfather, although the latter presented a very restricted alopecic patch. This clinical syndrome can be classified as group II of Friden's classification. The authors underline that the variable expression and penetration of this form requires an in-depth examination of relatives in order to formulate an accurate genetic judgement.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
abnormalities; aplasia cutis congenita; extremities
Elenco autori:
S. Menni, D. Imondi, G. Galbiati
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