title: Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
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.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: Gripp
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: C L
authors.initials: CL
authors.lastname: Clericuzio
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: M
authors.initials: M
authors.lastname: Guttenberg
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D003103:Coloboma / Q000235:genetics; D003241:Consanguinity; D003964:Diaphragm / Q000002:abnormalities / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013154:Spleen / Q000002:abnormalities / Q000473:pathology; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities / Q000473:pathology