Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
Publication/Presentation Date
2-11-1997
Abstract
We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation. All findings in this case are consistent with those described as a newly recognized syndrome by Donnai and Barrow [1993]. Since the parents are first cousins, this case provides further evidence for the previously postulated autosomal recessive inheritance pattern. Follow-up on the patients and families reported by Donnai and Barrow [1993] also supports autosomal recessive inheritance.
Volume
68
Issue
4
First Page
441
Last Page
444
ISSN
0148-7299
Published In/Presented At
Gripp, K. W., Donnai, D., Clericuzio, C. L., McDonald-McGinn, D. M., Guttenberg, M., & Zackai, E. H. (1997). Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. American journal of medical genetics, 68(4), 441–444. https://doi.org/10.1002/(sici)1096-8628(19970211)68:4<441::aid-ajmg13>3.0.co;2-s
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9021018
Department(s)
Department of Pediatrics
Document Type
Article