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Article

Cardiovascular malformations in Smith-Lemli-Opitz syndrome.

American journal of medical genetics - 31 Jan 1997

Lin A E, Ardinger H H, Ardinger R H, Cunniff C, Kelley R I

Abstract excerpt

We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class 1 (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%)...

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PMID: 9024558

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