Neu-Laxova Syndrome: Detailed Prenatal Diagnostic and Post-Mortem Findings and Literature Review

American Journal of Medical Genetics

Volumn 125 A, Issue 3, 2004, Pages 240-249

  Manning, Melanie A ^a   Cunniff, Christopher M ^b   Colby, Christopher E ^a   El Sayed, Yasser Y ^a   Hoyme, H Eugene ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

Fetal edema; Intrauterine growth restriction; Neu Laxova syndrome; Proptosis; Testrictive dermopathy

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; EDEMA; EXOPHTHALMOS; FACE MALFORMATION; FETUS; FETUS ECHOGRAPHY; HUMAN; ICHTHYOSIS; INTRAUTERINE GROWTH RETARDATION; LIMB MALFORMATION; LUNG HYPOPLASIA; MALE; MALFORMATION SYNDROME; MICROCEPHALY; NEU LAXOVA SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 1542348956     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20467     Document Type: Article

References (47)

1. Aslan H, Gul A, Polat I, Mutaf C, Agar M, Ceylan Y. 2002. Prenatal diagnosis Neu-Laxova syndrome: A case report. BMC Pregnancy Childbirth 2:1-4.
2. Broderick K, Oyer R, Chatwani A. 1988. Neu-Laxova syndrome: A case report. Am J Obstet Gynecol 158:574-575.
3. Bronshtein M, Blumenfeld I, Cohen I, Blumenfeld Z. 1993. Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome. J Clin Ultrasound 21:648-650.
4. Curry CJR. 1982. Letter to the Editor: Further comments on the Neu-Laxova syndrome. Am J Med Genet 13:441-444.
5. Curry C. 1983. Reply: Comments on Dr. Curry's classification of the Neu-Laxova syndrome. Am J Med Genet 15:516-517.
6. Curry CJR, Laurence KM, Scott CI, Opitz J, Hall JG. 1981. Further delineation of the Neu-Laxova syndrome. Clin Res 29:130A.
7. Driggers RW, Isbister S, McShane C, Stone K, Blakemore K. 2002. Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diag 22:118-120.
8. Ejeckam GG, Wadhwa JK, Williams JP, Lacson AG. 1986. Neu-Laxova syndrome: Report of two cases. Pediatr Pathol 5:295-306.
9. Fisher C. 2000. IKKa-/-mice share phenotype with pupoid fetus (pf/pf) and repeated epilation (Er/Er) mutant mice. TIG 16:482-484.
10. Fitch N. 1983. Letter to the Editor: Comments on Dr. Curry's classification of the Neu-Laxova syndrome. Am J Med Genet 15:515-517.
11. Fitch N, Resch L, Rochon L. 1982. The Neu-Laxova syndrome: Comments on syndrome identification. Am J Med Genet 13:445-452.
12. Gulmezoglu AM, Ekici E. 1994. Sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound 22:48-51.
13. Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. 1982. Limb pterygium syndromes: A review and report of eleven patients. Am J Med Genet 12:377-409.
14. Hirota T, Hirota Y, Asagami C, Muto M. 1998. A Japanese case of Neu-Laxova syndrome. J Dermatol 25:163-166.
15. Kainer F, Prechtl HFR, Dudenhausen JW, Unger M. 1996. Qualitative analysis of fetal movement patterns in the Neu-Laxova syndrome. Prenat Diag 16:667-669.
16. Karimi-Nejad MH, Khajavi H, Gharavi MJ, Karimi-Nejad R. 1987. Neu-Laxova syndrome: Report of a case and comments. Am J Med Genet 28:17-23.
17. King JA, Gardner V, Chen H, Blackburn W. 1995. Neu-Laxova syndrome: Pathological evaluation of a fetus and review of the literature. Ped Path Lab Med 15:57-79.
18. Kuseyri F, Bilge I, Bilgic L, Apak MY. 1993. Neu-Laxova syndrome: Report of a case from Turkey. Clin Genet 43:267-269.
19. Laxova R, Ohara PT, Timothy JAD. 1972. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 16:139-143.
20. Lazjuk GI, Lurie IW, Ostrowskaja TI, Cherstvoy ED, Kirillova IA, Nedzved MK, Usoev SS. 1979. Brief clinical observations: The Neu-Laxova syndrome - a distinct entity. Am J Med Genet 3:261-267.
21. Meguid NA, Temtamy SA. 1991. Brief Clinical Report: Neu-Laxova syndrome in two Egyptian families. Am J Med Genet 41:30-31.
22. Mennuti MT, Zackai EH, Curtis MT, Giardine RM, Driscoll DA. 1990. Early ultrasound diagnosis of Neu-Laxova syndrome. Am J Hum Genet 1109:A281.
23. Monaco R, Stabile M, Guida F, Sirimarco F. 1992. Echographic, radiological, and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome. Aust Radiol 36:51-53.
24. Mueller RF, Winter RM, Naylor CPE. 1983. Letter to the Editor: Neu-Laxova syndrome: Two further case reports and comments on proposed subclassification. Am J Med Genet 16:645-649.
25. Muller LN, de Jong G, Mouton SCE, Greeff MJ, Kirby P, Hewlett R, Jordaan HF. 1987. A case of Neu-Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. Am J Med Genet 26:421-429.
26. Naveed MCS, Sreenivas V. 1990. New manifestations of Neu-Laxova syndrome. Am J Med Genet 35:55-59.
27. Neu RL, Kajii T, Gardner LI, Nagyfy SF. 1971. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 46:610-612.
28. Ostrovskaya TI, Lazjuk GI. 1988. Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 30:747-756.
29. Paes B, Tompkins K, Toi A. 1985. Craniofacial and visceral defects with congenital contractures: A variant of the Neu-Laxova syndrome. J Clin Dysmorph 3:21-25.
30. Pivnick EK, Gilbert-Barness E, Laxova R, Kaufman RA, Tharapel AT, Dobyns WB, Curry C, Lacson A, Chambers D, Opitz JM. 2001. Long-term survival and trisomy 8 mosaicism in a patient with Neu-Laxova syndrome. XXII David W. Smith Workshop.
31. Povysilova V, Macek M, Salichova J, Seemanova E. 1976. Lethal syndrome of multiple malformations. Cesk Pediatr 31:190-194.
32. Rode ME, Mennuti MT, Giardine RM, Zackai EH, Driscoll DA. 2001. Early ultrasound diagnosis of Neu-Laxova syndrome. Prenat Diag 21:575-580.
33. Rouzbahani L. 1995. Letter to the Editor: New manifestations in an infant with Neu-Laxova syndrome. Am J Med Genet 56:239-240.
34. Russo R, D'Armiento M, Martinelli P, Ventruto V. 1989. Neu-Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female. Am J Med Genet 32:136-139.
35. Sabih D, Khan A, Sabih Z. 2001. Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound 29:531-534.
36. Scott CI, Louro JM, Laurence KM, Tolarova M, Hall JG, Reed S, Curry CJR. 1981. Letter to the Editor: Comments on the Neu-Laxova syndrome and CAD complex. Am J Med Genet 9:165-175.
37. Seemanova E, Rudolf R. 1985. Letter to the Editor: The Neu-Laxova syndrome. Am J Med Genet 20:13-15.
38. Shapiro I, Borochowitz Z, Degani S, Dar H, Ibschitz I, Sharf M. 1992. Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical, and pathological studies, and new manifestations. Am J Med Genet 43:603-605.
39. Shivarajan MA, Suresh S, Jagadeesh S, Lata S, Bhat L. 2003. Second trimester diagnosis of Neu-Laxova syndrome. Prenat Diagn 23:21-24.
40. Shreedhara AK, Sulochana P, Somegowda. 1999. Neu-Laxova syndrome. Indian Pediatr 36:328.
41. Shved IA, Lazjuk GI, Cherstvoy ED. 1985. Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome. Am J Med Genet 20:1-11.
42. Stevenson RE, Saul RA, Collins J, Davis WM, Lanford C. 1987. Cocoon fetus-fetal encasement secondary to ectodermal dysplasia. Proc Greenwood Genet Center 6:10-15.
43. Tolmie JL, Mortimer G, Doyle D, McKenzie R, McLaurin J, Neilson JP. 1987. The Neu-Laxova syndrome in female sibs: Clinical and pathological features with prenatal diagnosis in the second sib. Am J Med Genet 27:175-182.
44. Toriello HV. 1986. Invited Editorial Comment: Restrictive dermopathy and report of another case. Am J Med Genet 24:625-629.
45. Turkel SB, Ebbin AJ, Towner JW. 1983. Additional manifestations of the Neu-Laxova syndrome. J Med Genet 20:227-229.
46. Winter RM, Donnai D, d'A Crawfurd M. 1981. Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures. J Med Genet 18:129-133.
47. Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP. 1986. Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 24:631-648.