title: Neu-Laxova syndrome: a case report.
abstract: Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days.
authors.affiliation: Dr Sunirmal Roy, Associate Professor, Department of Neonatology, Sir Sallimullah Medical College (SSMC), Mitford, Dhaka, Bangladesh.
authors.forename: S
authors.initials: S
authors.lastname: Roy
authors.forename: J
authors.initials: J
authors.lastname: Begum
authors.forename: B
authors.initials: B
authors.lastname: Sharifunnaher
authors.forename: A K
authors.initials: AK
authors.lastname: Saha
authors.forename: S
authors.initials: S
authors.lastname: Afroza
authors.forename: M Z
authors.initials: MZ
authors.lastname: Islam
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001927:Brain Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*