Search :     
Articles » Syndromes » Neu Laxova syndrome
1999-05-29-23 Neu-Laxova syndromes © Jeanty www.thefetus.net/

Neu-Laxova syndromes

Philippe Jeanty, MD, PhD & Sandra R Silva, MD 

Definition: Neu-Laxova is a rare lethal syndrome characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectasia of the lungs, limb deformities, edema, polyhydramnios, and short umbilical cord[1].

Synonyms: None.

Incidence: Rare.

Etiology: Unknown.

Diagnosis: The ultrasonographic may include receding forehead, hypertelorism, cataract, severe ectropion, proptosis, prominent eyes, malformed ears, flat nose, micrognathia, severe microcephaly, lissencephaly,  dysgenesis of the corpus callosum, hypoplasia of the cerebellum, Dandy-Walker anomaly, choroid plexus cysts, unilateral renal agenesis, abnormal external genitalia (curved penis, cryptorchidism), hypoechoic skeletal structures, kyphosis, contractures of limbs, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits, edema, polyhydramnios, intrauterine growth retardation and feeble fetal activity,[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12].

Genetic anomalies: Autosomal recessive. Many cases have been in consanguineous parents. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography for accurate dating, fetal limb activity, facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.

Differential diagnosis: Lissencephaly, cerebrooculofacioskeletal syndrome, arthrogryposis.

Prognosis: Lethal.

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.

Reference:


 

[1] Lazjuk GI, Lurie IW, Ostrowskaja TI, Cherstvoy ED, Kirillova IA, Nedzved MK, Usoev SS Brief clinical observations: the Neu-Laxova syndrome--a distinct entity. Am J Med Genet 1979;3(3):261-7

[2] King JA, Gardner V, Chen H, Blackburn W Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. Pediatr Pathol Lab Med 1995 Jan-Feb;15(1):57-79

[3] Gulmezoglu AM, Ekici E Sonographic diagnosis of Neu-Laxova syndrome J Clin Ultrasound 1994 Jan;22(1):48-51

[4] Bronshtein M, Blumenfeld I, Cohen I, Blumenfeld Z Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome J Clin Ultrasound 1993 Nov-Dec;21(9):648-50

[5] Shapiro I, Borochowitz Z, Degani S, Dar H, Ibschitz I, Sharf M Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. Am J Med Genet 1992 Jun 1;43(3):602-5

[6] Monaco R, Stabile M, Guida F, Sirimarco F Echographic, radiological and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome. Australas Radiol 1992 Feb;36(1):51-3

[7] Naveed, Manjunath CS, Sreenivas V New manifestations of Neu-Laxova syndrome Am J Med Genet 1990 Jan;35(1):55-9

[8] Russo R, D"Armiento M, Martinelli P, Ventruto V Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female. Am J Med Genet 1989 Jan;32(1):136-9

[9] Ostrovskaya TI, Lazjuk GI Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 1988 Jul;30(3):747-56

[10] Tolmie JL, Mortimer G, Doyle D, McKenzie R, McLaurin J, Neilson JP The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. Am J Med Genet 1987 May;27(1):175-82

[11] Muller LM, de Jong G, Mouton SC, Greeff MJ, Kirby P, Hewlett R, Jordaan HF A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. Am J Med Genet 1987 Feb;26(2):421-9

[12] Ejeckam GG, Wadhwa JK, Williams JP, Lacson AG Neu-Laxova syndrome: report of two cases. Pediatr Pathol 1986;5(3-4):295-306

Help Support TheFetus.net :