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Bartsoeas-Papas syndrome with internal anomalies: Evidence for a more generalized epithelial defect or new syndrome?
- Source :
- American journal of medical genetics, 53(2), 102-107. Wiley-Liss Inc.
- Publication Year :
- 1994
- Publisher :
- Wiley, 1994.
-
Abstract
- We report on two Dutch sibs with external anomalies compatible with Bartsocas–Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients. © 1994 Wiley-Liss, Inc.
- Subjects :
- Male
Unilateral renal agenesis
Diaphragm
Limb Deformities, Congenital
Anal Canal
Kidney
Epithelium
medicine
Humans
Abnormalities, Multiple
Esophageal Atresia
Genetics (clinical)
Bartsocas-Papas Syndrome
biology
business.industry
Infant, Newborn
Extremities
Syndrome
Anatomy
medicine.disease
biology.organism_classification
Radiography
Bilateral Renal Agenesis
medicine.anatomical_structure
Anal atresia
Face
Agenesis
Atresia
Diaphragma
business
Penis
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 53
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....633156a69e4022a5a5ac259b196ce5d3