TY - JOUR
T1 - Limb deficiency in an infant with Smith-Lemli-Opitz syndrome
AU - Singer, L. P.
AU - Marion, R. W.
AU - Li, J. K.H.
PY - 1989
Y1 - 1989
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320320323
DO - 10.1002/ajmg.1320320323
M3 - Article
C2 - 2729358
AN - SCOPUS:0024307960
SN - 0148-7299
VL - 32
SP - 380
EP - 383
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -