The Authors report on a little patient affected with the «hairy elbows syndrome». This rare anomaly is characterised by an excessive, abnormal growth of the hairs localised on elbow regions. Most cases are sporadic, but instances of autosomal dominant or recessive inheritance are reported in the literature. Frequent associated findings are represented by short stature, IUGR, speech delay. The diagnosis is not easy because the hirsutism of the elbows is not present at birth, but appears during infancy, reaches its maximum clinical expression around 5 or 6 years of age and disappears by puberty.
The hairy elbows syndrome. Report of a case with a particularly severe phenotype
Baieli S.;Mauceri L.;Fiumara A.
2002-01-01
Abstract
The Authors report on a little patient affected with the «hairy elbows syndrome». This rare anomaly is characterised by an excessive, abnormal growth of the hairs localised on elbow regions. Most cases are sporadic, but instances of autosomal dominant or recessive inheritance are reported in the literature. Frequent associated findings are represented by short stature, IUGR, speech delay. The diagnosis is not easy because the hirsutism of the elbows is not present at birth, but appears during infancy, reaches its maximum clinical expression around 5 or 6 years of age and disappears by puberty.File in questo prodotto:
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