title: Early second trimester prenatal diagnosis of Neu-Laxova syndrome.
abstract: Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history.
authors.affiliation: Department of Gynecology/Obstetrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. rdrigge@jmhi.edu
authors.forename: R W
authors.initials: RW
authors.lastname: Driggers
authors.forename: S
authors.initials: S
authors.lastname: Isbister
authors.forename: C
authors.initials: C
authors.lastname: McShane
authors.forename: K
authors.initials: K
authors.lastname: Stone
authors.forename: K
authors.initials: K
authors.lastname: Blakemore
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001921:Brain / Q000002:abnormalities; D002490:Central Nervous System / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D005121:Extremities; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012600:Scoliosis / Q000150:complications; D013577:Syndrome; D014463:Ultrasonography