Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3193-3196

  Manar, Al Lawama ^a   Asma, Basha ^a  

^a UNIVERSITY OF JORDAN   (Jordan)

Author keywords

[No Author keywords available]

Indexed keywords

AGYRIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN HEMORRHAGE; CASE REPORT; CLINICAL FEATURE; CLUBFOOT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; FOOT EDEMA; GESTATIONAL AGE; HAND EDEMA; HUMAN; HYPERTELORISM; INTRAUTERINE GROWTH RETARDATION; KYPHOSIS; LETTER; MICROCEPHALY; NEU LAXOVA SYNDROME; NEWBORN; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCOLIOSIS; X RAY;

ABNORMALITIES, MULTIPLE; AMNIOCENTESIS; CONSANGUINITY; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; KARYOTYPING; LISSENCEPHALY; MICROCEPHALY; RADIOGRAPHY, THORACIC; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; ULTRASONOGRAPHY, PRENATAL;

EID: 78649662607     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33737     Document Type: Letter

References (12)

1. Abdel Meguid N, Temtamy SA. 1991. Neu-Laxova syndrome in two Egyptian families. Am J Med Genet 41: 30-31.
2. Allias F, Buenerd A, Bouvier R, Attia-Sobol J, Dijoud F, Clémenson A, Encha-Razavi F. 2004. The spectrum of type III Lissenencephaly: A clinicopathological update. Fetal Pediatr Pathol 23: 305-317.
3. Carder KR, Fitzpatrick JE, Weston WL. 2003. What syndrome is this? Pediatr Dermatol 20: 78-80.
4. Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM. 2010. A spectrum of phonotypical expression of Neu-Laxova syndrome: Three case reports and a review of the literature. Fetal Pediatr Pathol 29: 108-119.
5. Khoury SA, Massad D. 1992. Consanguineous marriage in Jordan. Am J Med Genet 43: 769-775.
6. Laxova R, Ohara PT, Timothy JA. 1972. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 16: 139-143.
7. Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. 2004. Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet Part A 125A: 240-249.
8. Martín A, Eguiluz I, Barber MA, Medina N, Plasencia W, García-Alix A, García-Hernández JA. 2006. A rare cause of polyhydramnios: Neu-Laxova syndrome. J Matern Fetal Neonatal Med 19: 439-442.
9. Neu RL, Kajii T, Gardner LI, Nagyfy SF. 1971. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 47: 610-612.
10. Obeidat BR, Khader YS, Amarin ZO, Kassawneh M, Al Omari M. 2010. Consanguinity and adverse pregnancy outcomes: The North of Jordan experience. Matern Child Health J 14: 283-289.
11. Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hammy HA. 2009. Consanguinity and reproductive health among Arabs. Reprod Health 6: 17.
12. Ugras M, Kocak G, Ozcan H. 2006. Neu-Laxova syndrome: A case report and review of the literature. J Eur Acad Dermatol Venereol 20: 1126-1128.