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Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)

โœ Scribed by Kumru, Pınar; Aka, Nurettin; Köse, Gültekin; Vural, Zeynep Tuzcular; Peker, Önder; Kayserili, Hülya

Book ID
127045734
Publisher
S. Karger AG
Year
2005
Tongue
English
Weight
232 KB
Volume
20
Category
Article
ISSN
1015-3837

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Short-rib-polydactyly syndrome type Verm
Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities
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Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic ''dysplasia,'' short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed,

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Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder
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Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anom

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A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, espe