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.

NARDELLO R, MANGANO S, FONTANA A, TRIPI G, DIDATO MA, DI PACE M, et al. (2008). The hairy elbows syndrome: clinical and neuroradiological findings. PEDIATRIA MEDICA E CHIRURGICA, 30, 262-264.

The hairy elbows syndrome: clinical and neuroradiological findings.

NARDELLO, Rosaria;MANGANO, Salvatore;FONTANA, Antonina;TRIPI, Gabriele;DIDATO, Maria Angela;DI PACE, Maria Rita;CORSELLO, Giovanni
2008-01-01

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.
2008
Settore MED/39 - Neuropsichiatria Infantile
Settore MED/38 - Pediatria Generale E Specialistica
NARDELLO R, MANGANO S, FONTANA A, TRIPI G, DIDATO MA, DI PACE M, et al. (2008). The hairy elbows syndrome: clinical and neuroradiological findings. PEDIATRIA MEDICA E CHIRURGICA, 30, 262-264.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/39439
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