PEDIATRICS Vol. 80 No. 4 October 1987, pp. 540-544
This Article
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Seashore, J. H.
Right arrow Articles by Seashore, M. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Seashore, J. H.
Right arrow Articles by Seashore, M. R.

Familial Apple Peel Jejunal Atresia: Surgical, Genetic, and Radiographic Aspects

John H. Seashore MD1, Francis S. Collins MD1, Richard I. Markowitz MD1, and Margretta R. Seashore MD1

1 From the Departments of Surgery, Radiology, and Human Genetics, Yale University School of Medicine, New Haven, Connecticut; and the Departments of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor

Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report three new cases of apple peel jejunal atresia, including two from one family. Radiographic evidence of high small bowel obstruction and a malrotated microcolon on preoperative roentgenogram with barium enema should suggest this diagnosis. Five families, including ours, have been reported in which more than one child was affected, and it has been suggested that this disorder is transmitted by an autosomal recessive gene. However, the occurrence of conventional intestinal atresia in other siblings, the association with multiple atresias, and discordance in a set of apparently monozygotic twins indicate that there may be a more complex spectrum of genetic transmission. Subsequent siblings are at increased risk for apple peel atresia or related malformations. Prenatal ultrasound can facilitate early diagnosis and treatment.

Key Words: intestinal atresia • apple peel atresia • microcolon • recessive inheritance

Submitted on August 4, 1986
Accepted on October 28, 1986




This article has been cited by other articles:


Home page
 GeneticsHome page
K. W. Broman, S. Sen, S. E. Owens, A. Manichaikul, E. M. Southard-Smith, and G. A. Churchill
The X Chromosome in Quantitative Trait Locus Mapping
Genetics, December 1, 2006; 174(4): 2151 - 2158.
[Abstract] [Full Text] [PDF]