Published isolated familial congenital diaphragmatic hernia (IFCDH) cases
| Affected family members | Possible mendelian inheritance mechanism involved | No assigned to the family in our study | No in prototype pedigree figures | References |
|---|---|---|---|---|
| Two brothers and a maternal uncle | Sex linked recessive, autosomal dominant with incomplete penetrance | 1,2 | 1a | 9, 10 |
| Two half brothers from the same mother | Sex linked recessive or dominant, autosomal dominant | 3 | 1b | 11 |
| Father and daughter | Sex linked dominant, autosomal dominant | 4 | 1c | 12 |
| Mother and son | Sex linked dominant or recessive, autosomal dominant | 5 | 1d | 13 |
| Various affected family members in only one generation of a consanguineous kindred | Autosomal recessive | 6 | 1e | 5 |