title: Second trimester diagnosis of Neu Laxova syndrome.
abstract: This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography. Risk factors such as consanguinity and history of intrauterine death or stillbirth in siblings have been noted in all the cases, but none of the three families that were reported had previously had an affected fetus. The spectrum of skin manifestations and frequency of occurrence of major clinical features of the syndrome have been discussed. Review of the literature on NLS and possibility of detecting the syndrome in the second trimester is discussed.
authors.affiliation: Department of Clinical Genetics & Dysmorphology, Mediscan Prenatal Diagnosis & Fetal Therapy Centre, Royapettah, Chennai, India.
authors.forename: M A
authors.initials: MA
authors.lastname: Shivarajan
authors.forename: S
authors.initials: S
authors.lastname: Suresh
authors.forename: Sujatha
authors.initials: S
authors.lastname: Jagadeesh
authors.forename: S
authors.initials: S
authors.lastname: Lata
authors.forename: Lathaa
authors.initials: L
authors.lastname: Bhat
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D007057:Ichthyosis / Q000196:embryology / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008831:Microcephaly / Q000000981:diagnostic imaging*; D009421:Nervous System Malformations / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013577:Syndrome; D016216:Ultrasonography, Prenatal