The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Authors :: Farag TI
al-Awadi SA
Marafie MJ
Bastaki L
al-Othman SA
Mohammed FM
AlSuliman IS
Murthy DS
Source :: Journal of medical genetics [J Med Genet] 1993 Jan; Vol. 30 (1), pp. 62-4.
Publication Year :: 1993
Abstract: A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

Subjects :: Adolescent
Adult
Consanguinity
Female
Genes, Recessive
Humans
Infant, Newborn
Iraq
Male
Syndrome
Abnormalities, Multiple genetics
Ectromelia genetics
Mullerian Ducts abnormalities
Pelvic Bones abnormalities

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