Figure 2

Pedigree of the family. The proband's mother (III₄), who is an obligate carrier, had a normal renal US scan and normal thoracic radiographs. She had three marriages (III₃, ₅, ₆) and four gestations, including IV₂ (index case) and IV₃, ₄ (two boys aged 15 and 5, respectively). In IV₃, right renal agenesis was diagnosed. We have not observed associated genital anomalies. IV₄ was prenatally diagnosed at 20 weeks with a dysplastic right kidney. He has associated genital anomalies (absent right testis). Subject IV₅ has a normal phenotype. The mother and sister of III₄ have normal US scans and radiographs. III₄ described lung hypoplasia diagnosed at autopsy in her father (II₂) and grandfather (I₁). Grey squares indicate lung hypoplasia reported by subject III₄ but not documented with a clinical history.