Section 43
Chapter 42,353

Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome

Hernández, A.; Ramírez, M.L.; Nazará, Z.; Ocampo, R.; Ibarra, B.; Cantú, J.M.

American Journal of Medical Genetics 5(2): 179-188


ISSN/ISBN: 0148-7299
PMID: 6772027
DOI: 10.1002/ajmg.1320050212
Accession: 042352982

Three sibs from a Mexican mestizo family affected with a spondylo-epi-metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.

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