TY - JOUR
T1 - Neu-Laxova Syndrome
T2 - Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review
AU - Manning, Melanie A.
AU - Cunniff, Christopher M.
AU - Colby, Christopher E.
AU - El-Sayed, Yasser Y.
AU - Hoyme, H. Eugene
PY - 2004/3/15
Y1 - 2004/3/15
N2 - Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.
AB - Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.
KW - Fetal edema
KW - Intrauterine growth restriction
KW - Neu-Laxova syndrome
KW - Proptosis
KW - Testrictive dermopathy
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U2 - 10.1002/ajmg.a.20467
DO - 10.1002/ajmg.a.20467
M3 - Article
C2 - 14994231
AN - SCOPUS:1542348956
SN - 1552-4825
VL - 125 A
SP - 240
EP - 249
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -