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Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes

โœ Scribed by K. Toftager-Larsen; R. J. Benzie

Book ID
119839578
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
334 KB
Volume
26
Category
Article
ISSN
0009-9163

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๐Ÿ“œ SIMILAR VOLUMES

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
โœ Hentze, Sabine; Sergi, Consolato; Troeger, Jochen; Revell, Peter A.; Otto, Herwa ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB

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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Early detection of abnormal development of the fetal skeletal system is only one of the structural abnormalities that have been studied with ul-trasound1-4. In order to evaluate a fetus at risk for a skeletal dysplasia, careful scanning of upper and lower extremities, cranium, thorax and abdomen is