Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.
Publication
, Journal Article
Gibbs, DL; Rice, HE; Farrell, JA; Adzick, NS; Harrison, MR
Published in: J Pediatr Surg
February 1997
Diaphragmatic agenesis is a severe form of congenital diaphragmatic hernia for which an autosomal recessive form of inheritance has been proposed. The authors report six families with 13 pregnancies with diaphragmatic agenesis in which inheritance followed an autosomal recessive pattern, including the first reported case of bilateral diaphragmatic agenesis in twins. None of the thirteen affected fetuses survived. Familial diaphragmatic agenesis appears to be a distinct clinical entity with a worse prognosis than posterolateral diaphragmatic hernia.
Duke Scholars
Published In
J Pediatr Surg
DOI
ISSN
0022-3468
Publication Date
February 1997
Volume
32
Issue
2
Start / End Page
366 / 368
Location
United States
Related Subject Headings
- Prognosis
- Pedigree
- Pediatrics
- Male
- Infant, Newborn
- Humans
- Hernias, Diaphragmatic, Congenital
- Hernia, Diaphragmatic
- Genes, Recessive
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Gibbs, D. L., Rice, H. E., Farrell, J. A., Adzick, N. S., & Harrison, M. R. (1997). Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. J Pediatr Surg, 32(2), 366–368. https://doi.org/10.1016/s0022-3468(97)90212-8
Gibbs, D. L., H. E. Rice, J. A. Farrell, N. S. Adzick, and M. R. Harrison. “Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.” J Pediatr Surg 32, no. 2 (February 1997): 366–68. https://doi.org/10.1016/s0022-3468(97)90212-8.
Gibbs DL, Rice HE, Farrell JA, Adzick NS, Harrison MR. Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. J Pediatr Surg. 1997 Feb;32(2):366–8.
Gibbs, D. L., et al. “Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis.” J Pediatr Surg, vol. 32, no. 2, Feb. 1997, pp. 366–68. Pubmed, doi:10.1016/s0022-3468(97)90212-8.
Gibbs DL, Rice HE, Farrell JA, Adzick NS, Harrison MR. Familial diaphragmatic agenesis: an autosomal-recessive syndrome with a poor prognosis. J Pediatr Surg. 1997 Feb;32(2):366–368.
Published In
J Pediatr Surg
DOI
ISSN
0022-3468
Publication Date
February 1997
Volume
32
Issue
2
Start / End Page
366 / 368
Location
United States
Related Subject Headings
- Prognosis
- Pedigree
- Pediatrics
- Male
- Infant, Newborn
- Humans
- Hernias, Diaphragmatic, Congenital
- Hernia, Diaphragmatic
- Genes, Recessive
- Female