The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
نویسندگان
چکیده
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.
منابع مشابه
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.
A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.
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The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome Several reports have been published describing the newly recognised autosomal recessive limb/pelvis-hypoplasia/aplasia syndrome (LPHAS).'-5 Raas-Rothschild et al3 have speculated that the rare LPHAS gene has its origin in the Middle East, on the basis of both their report on three sibs of Iranian Jew...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 1 شماره
صفحات -
تاریخ انتشار 1993