title: Neu-Laxova syndrome in an appropriate for gestational age newborn.
abstract: Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.
authors.affiliation: Department of Pediatrics, Ministry of Health Ankara Training and Research Hospital, Ankara, Turkey. dilekdilli2@yahoo.com
authors.forename: Dilek
authors.initials: D
authors.lastname: Dilli
authors.forename: Handan
authors.initials: H
authors.lastname: Yaşar
authors.forename: Uğur
authors.initials: U
authors.lastname: Dilmen
authors.forename: Gülay
authors.initials: G
authors.lastname: Ceylaner
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D055815:Young Adult