Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
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.
Manning
Melanie A
MA
Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA. mmanning@stanford.edu
Cunniff
Christopher M
CM
Colby
Christopher E
CE
El-Sayed
Yasser Y
YY
Hoyme
H Eugene
HE
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005094:Exophthalmos / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008297:Male; D009421:Nervous System Malformations / Q000000981:diagnostic imaging*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal