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RSH (Smith-Lemli-Opitz) syndrome: ?Severe? phenotype with ectrodactyly

โœ Scribed by de Jong, Greetje; Kirby, Pat A.; Muller, Linnie M.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
37 KB
Volume
75
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980123)75:3<283::aid-ajmg11>3.0.co;2-l

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โœฆ Synopsis

We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.

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