Cornelia de Lange syndrome associated with thoracic meningocele

Clinical Dysmorphology

Volumn 19, Issue 3, 2010, Pages 161-163

  Mutlu, Mehmet ^a   Dilber, Beril ^a   Aslan, Yakup ^a  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

SURFACTANT;

ARM DISEASE; ARTICLE; BRACHYCEPHALY; CARDIOVASCULAR SYSTEM EXAMINATION; CASE REPORT; CLINICAL FEATURE; CLINODACTYLY; CONVULSION; DE LANGE SYNDROME; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; HEART MURMUR; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; LIMB DISEASE; MENINGOCELE; MICROBRACHYCEPHALY; MICROCEPHALY; MICROMELIA; MUSCLE HYPOTONIA; NEURAL TUBE DEFECT; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODACTYLIA; PATENT DUCTUS ARTERIOSUS; PHYSICAL EXAMINATION; POLYDACTYLY; PRIORITY JOURNAL; RESPIRATORY DISTRESS; THORACIC MENINGOCELE;

DE LANGE SYNDROME; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MENINGOCELE; PREGNANCY; THORAX;

EID: 77953545422     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328338f8b3     Document Type: Article

References (11)

1. Ballard JL, Khoury JC,Wedig K,Wang L, Eilers-Walsman BL, Lipp R (1991). New Ballard Score, expanded to include extremely premature infants. J Pediatr 119:417-423.
2. Beck B, Fenger K (1985). Mortality, pathological findings and causes of death in the de-Lange syndrome. Acta Paediatr Scand 74:765-769.
3. Berry RJ, Li Z, Erickson JD, Li S, Moore CA,Wang H, et al. (1999). Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative project for neural tube defect Prevention. N Engl J Med 341:1485-1490.
4. Botto LD, Moore CA, Khoury MJ, Erickson JD (1999). Neural tube defects. N Engl J Med 341:1509-1519.
5. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al. (2007). Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet 143A:1287-1296.
6. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, et al. (2004). Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
7. Opitz JM (1985). The Brachmann-de Lange syndrome. Am J Med Genet 22: 89-102.
8. Ptacek LJ, Opitz JM, Smith DW, Gerritsen T,Waisman HA (1963). The Cornelia de Lange syndrome. J Pediatr 63:1000-1020.
9. Silahtaroglu AN, Tumer Z, Kristensen T, Sottrup-Jensen L, Tommerup N (1993). Assignment of the human gene for pregnancy associated plasma protein A (PAPPA) to 9q 33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. Cytogenet Cell Genet 62:214-216.
10. Urban M, Hartung J (2001). Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. Am J Med Genet 102:73-75.
11. Yamaguchi K, Ishitobi F (1999). Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol 18:99-105.