Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
نویسندگان
چکیده
A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.
منابع مشابه
The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.
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...
متن کاملAl-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies
Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented...
متن کاملPathological 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.
متن کاملMutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retrov...
متن کاملThe newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
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.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 1 شماره
صفحات -
تاریخ انتشار 1993