Neu–Laxova syndrome
| Neu–Laxova syndrome | |
|---|---|
| Other names | Neu-Povysilová syndrome; Neu syndrome; 3-phosphoglycerate dehydrogenase deficiency, neonate form |
| Neu–Laxova syndrome[1] | |
| Specialty | Medical genetics |
Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form)[2] is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971[3] and Dr. Renata Laxova in 1972[4] as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature.
- ^ a b Aslan H, Gul A, Polat I, Mutaf C, Agar M, Ceylan Y (2002). "Prenatal diagnosis of Neu-Laxova syndrome: a case report". BMC Pregnancy and Childbirth. 2 (1): 1. doi:10.1186/1471-2393-2-1. PMC 88995. PMID 11895570.
- ^ Neu–Laxova syndrome
- ^ Neu, Richard L.; Kajii, Tadashi; Gardner, Lytt I.; Nagyfy, Stephen F.; King, Saddie (March 1, 1971). "A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings". Pediatrics. 47 (3): 610–612. doi:10.1542/peds.47.3.610. PMID 5547878. S2CID 35328752.
- ^ Laxova, Renata; Ohara, P.T.; Timothy, J.A.D. (March 1972). "A further example of a lethal autosomal recessive condition in sibs". Journal of Intellectual Disability Research. 16 (1–2): 139–143. doi:10.1111/j.1365-2788.1972.tb01585.x. PMID 4671862.