Neu-Laxova syndrome: A case report and review of the literature

Journal of the European Academy of Dermatology and Venereology

Volumn 20, Issue 9, 2006, Pages 1126-1128

  Ugras, M ^a   Kocak, G ^a   Ozcan, H ^a  

^a INONU UNIVERSITY   (Turkey)

Author keywords

Growth retardation; Ichthyosis; Neu Laxova syndrome

Indexed keywords

AGYRIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BODY HEIGHT; BONE MINERALIZATION; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DEATH; FEMALE; FOOT EDEMA; HAND EDEMA; HEAD CIRCUMFERENCE; HUMAN; HYPERTELORISM; ICHTHYOSIS; LOW SET EAR; MICROCEPHALY; MICROGNATHIA; MICROGYRIA; NEU LAXOVA SYNDROME; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGNOSIS; SEPTICEMIA; SKIN EXFOLIATION; STAPHYLOCOCCUS EPIDERMIDIS; STAPHYLOCOCCUS INFECTION; TURKEY (REPUBLIC);

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; ERYTHEMA; FEMALE; HUMANS; INFANT, NEWBORN; SYNDROME;

EID: 33748912913     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2006.01645.x     Document Type: Article

References (19)

1. Neu RL, Kajii T, Gardner LI et al. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971; 47: 610-612.
2. Manning MA, Cunniff CM, Colby CE et al. Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A 2004; 15: 240-249.
3. Shapiro I, Borochowitz Z, Degani S et al. Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. Am J Med Genet 1992; 43: 602-605.
4. Gulmezoglu M, Ekici E. Sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound 1994; 22: 48-51.
5. Russo R, D'armiento M, Martinelli P, Ventruto V. Neu-Laxova syndrome: pathological radiological and prenatal findings in a stillborn female. Am J Med General 1989; 32: 136-139.
6. Naveed MCS, Sreenivas V. New manifestations of Neu-Laxova syndrome. Am J Med Genet 1990; 35: 55-59.
7. Ejeckam GC, Wadhwa JK, Williams JP, Lacson AG. Neu-Laxova syndrome: report of two cases. Pediatr Pathol 1986; 5: 295-306.
8. Muller, LN, de Jong G, Mouton SCE et al. Case of Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and histopathological findings. Am J Med Genet 1987; 26: 421-429.
9. Kuseyri F, Bilge I, BilgiçL, Apak MY. Neu-Laxova syndrome: Report of a case from Turkey. Clin Genet 1993; 43: 267-269.
10. Baran R, Toski A. Nails. In: Freedberg IM, Eisen AZ, Fitzpatrick TB et al., eds. Dermatology in General Medicine, 5 th edition. McGraw-Hill, New York, 1999: 752-768.
11. Jones KL, ed. Smith's Recognizable Patterns of Human Malformations. W.B. Saunders Co., Philadelphia, 1988: 132-135.
12. Aslan H, Gül A, Polat I. Prenatal diagnosis of Neu-Laxova syndrome: a case report. BMC Pregnancy Childbirth 2002; 2: 1-5.
13. Pena SDJ, Shokeir MHK. Autosomal recessive cerebro-oculo-facio-skeletal syndrome. Clin Genet 1974; 5: 285-293.
14. Kanoff RJ, Curless RG, Petito C et al. Walker-Warburg syndrome: neurologic features and muscle membrane structure. Pediatr Neurol 1998; 18: 76-80.
15. Kulkarni ML, Sehgal A, Keshavamurthy KS, Kulkarni PM. Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings. Indian J Pediatr 2004; 71: 1143-1143.
16. Jira PE, Waterham HR, Wanders RJ et al. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann Hum Genet 2003; 67: 269-280.
17. Izmeth MG, Parameshwar E. The Miller-Dieker syndrome: A case report and review of the literature. J Ment Defic Res 1989; 33: 267-270.
18. Curry CJ. Further comments on the Neu-Laxova syndrome. Am J Med Genet 1982; 13: 441-444.
19. Hirota T, Hirota Y, Asagami C, Muto M. A Japanese case of Neu-Laxova syndrome. J Dermatol 1998; 25: 163-166.