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Article

RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.

American journal of medical genetics - 23 Jan 1998

de Jong G, Kirby P A, Muller L M

Abstract excerpt

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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Identifiers

PMID: 9475598
DOI: 10.1002/(sici)1096-8628(19980123)75:3<283::aid-ajmg11>3.0.co;2-l

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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