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A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
Author(s) -
Aguilar Lydia,
Lisker Rubén,
HernándezPeniche J.,
MartínezVillar C.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb04243.x
Subject(s) - palpebral fissure , consanguinity , mental deficiency , epilepsy , autosomal recessive inheritance , medicine , dermatology , pediatrics , biology , anatomy , genetics , psychiatry , gene
Mental retardation, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, with a particular facies and shortened fifth finger were found in a 12‐year‐old Mexican girl. She has six siblings, of whom five have the same characteristics. The parents and the elder sister were not affected, and there was no history of consanguinity. This seems to be a new syndrome, and as both sexes are affected, the parents are normal and several siblings have the same syndrome, we postulate an autosomal recessive mode of inheritance.