Resumo

MORILLA GUZMAN, Andrés A. et al. Report of a congenital hemidysplasia with erythrodermic ichthyosis. Rev Cubana Pediatr [online]. 2008, vol.80, n.3, pp. 0-0. ISSN 1561-3119.

Congenital hemidysplasia with icthyosis and limb defects is a hereditary, monogenic and infrequent disease transmitted as a dominant trait linked to the X chromosome. The case of a female patient with this neonatal clinical diagnosis showing ichthyosiform erythroderma on the right hemibody, accompanied with hypomelia of the right upper and lower limbs, bone defects in the affected limbs and spinal column, unilateral renal agenesia, congenital heart disease with inter- and conoventricular communication, and a unique umbilical artery was reported. The necessary inter-consultations were arranged and sonographic and radiological studies were conducted to complete the diagnosis. Genetic counselling was given and the case was followed up according to the complications reported in medical literature, and to the clinical findings of the patient.

Palavras-chave : CHILD'S syndrome; newborn.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )