Familial diaphragmatic agenesis: An autosomal-recessive syndrome with a poor prognosis

Journal of Pediatric Surgery

Volumn 32, Issue 2, 1997, Pages 366-368

  Gibbs, David L ^a   Rice, Henry E ^a   Farrell, Jody A ^a   Adzick, N Scott ^a   Harrison, Michael R ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Fetal Treatment Center   (United States)

Author keywords

autosomal recessive inheritance; congenital diaphragmatic hernia; Familial diaphragmatic agenesis

Indexed keywords

AGENESIS; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONFERENCE PAPER; CONGENITAL DIAPHRAGM HERNIA; FAMILIAL DISEASE; FEMALE; HUMAN; MALE; NEWBORN; NEWBORN MORTALITY; PRIORITY JOURNAL; PROGNOSIS;

EID: 0031049190     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3468(97)90212-8     Document Type: Conference Paper

References (6)

1. Pollack LD, Hall JG: Posterolateral (Bochdalek's) diaphragmatic hernia in sisters. Am J Dis Child 133:1186-1188, 1979
2. Sripathi V, Beasley SW: Familial occurrence of complete agenesis of the diaphragm. J Paediatr Child Health 28:190-191, 1992
3. Tsang TM, Tam PK, Dudley NE, et al: Diaphragmatic agenesis as a distinct clinical entity. J Pediatr Surg 30:16-18, 1995
4. Hitch DC, Carson JA, Smith EI, et al: Familial congenital diaphragmatic hernia is an autosomal recessive variant. J Pediatr Surg 24:860-864, 1989
5. Jasnosz KM, Hermansen MC, Snider C. et al: Congenital complete absence (bilateral agenesis) of the diaphragm: A rare variant of congenital diaphragmatic hernia Am J Perinatol 11:340-343, 1994
6. Passarge E, Halsey H. German J: Unilateral agenesis of the diaphragm. Humangenetik 5:226-230, 1968