Limb deficiency in an infant with Smith-Lemli-Opitz syndrome

L. P. Singer, R. W. Marion, J. K.H. Li

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


We describe a 46,XY newborn infant with Smith-Lemli-Opitz syndrome (SLOS) with multiple congenital anomalies including female external genitalia, a testis palpable in each labium majus, a cone-shaped cervix, and normal vagina. Additional anomalies included cleft palate, total anomalous pulmonary venous return, and striking limb defects (electrodactyly of the left upper limb, radial aplasia, and monodactyly of the right upper limb). To our knowledge, this is the first report of SLOS associated with limb deficiency and the third associated with total anomalous pulmonary venous return. Our patient demonstrates that limb deficiencies may be a rare component manifestation in this syndrome of multiple congenital anomalies.

Original languageEnglish (US)
Pages (from-to)380-383
Number of pages4
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1989

ASJC Scopus subject areas

  • Genetics(clinical)


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