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The hairy elbows syndrome: clinical and neuroradiological findings.

作者信息

Nardello R, Mangano S, Fontana A, Tripi G, Didato M A, Di Pace M, Corsello G

机构信息

Dipartimento Materno Infantile, Unità Operativa di Neuropsichiatria Infantile, Università degli Studi di Palermo.

出版信息

Pediatr Med Chir. 2008 Sep-Oct;30(5):262-4.

PMID:19320141
Abstract

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome.

摘要

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