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Smith‐Lemli‐Opitz syndrome in female, monozygotic twins
Author(s) -
Tzouvelekis G.,
Antoniades K.,
Batma A.,
Nanas Ch.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03082.x
Subject(s) - smith–lemli–opitz syndrome , craniofacial , medicine , growth retardation , pediatrics , monozygotic twin , sex organ , craniofacial abnormality , biology , genetics , pregnancy , psychiatry , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
A pair of monozygotic female twins with SLO syndrome is presented. We have found only one paper in the literature that referred to twins with this rare syndrome. The multiple congenital defects in these cases, consist of limb and genital abnormalities, retardation of growth, mental deficiency, craniofacial defects and abnormal neurological status.