Publications by authors named "Ana M Coronel"

An 8-year-old mentally retarded boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with cutis marmorata telangiectatica congenita (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm. At the age of 4 years, an aneurysmatic nodular lesion developed in the angle of his right elbow, and subsequently two similar lesions emerged on his forehead and scalp. Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted.

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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition.

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