Figure 1.
Pedigree showing three generations in a Serbian family with multiple members affected by Townes Brocks syndrome
Table 1.
Phenotypic features of family members with Townes–Brocks syndrome (CKD – chronic kidney disease, ASD – atrial septal defect, VUR – vesicoureteral reflux)
| Patient | Relationship | Sex | Age (years) | Dysplastic ears | Hearing loss | Digital anomalies | Anorectal anomalies | Urogenital Anomalies | Renal anomalies | Kidney function | Endocrine abnormalities | Congenital heart disorder | Ocular disorders | Intellectual disability |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Proband | F | 19 | + | + | - | + | - | Hypodysplasia/ VUR | CKD V/Transplantation | - | - | - | + |
| Patient 2 | First cousin of proband | M | 8 | + | - | - | + | + | Hypodysplasia | CKD II stage | Hypothyroidism | ASD | - | + |
| Patient 3 | Aunt of proband, mother of patient 2 | F | 46 | - | - | - | - | - | Hypodysplasia | CKD III stage | - | - | - | - |
| Patient 4 | Mother of proband | F | 47 | - | - | - | - | - | Hypodysplasia | CKD IV stage | - | - | - | - |
| Patient 5 | Aunt of proband | F | 38 | - | - | - | - | - | Hypodysplasia | CKD IV/V stage | - | - | - | - |
| Patient 6 | Aunt of proband | F | 35 | - | - | - | - | - | Hypodysplasia | CKD III stage | - | - | - | - |
| Patient 7 | Grandfather of proband | M | 60 | - | + | - | - | - | Unknown | CKD V/Hemodialysis | - | - | - | - |
Figure 2.
Right auricle of a boy (patient 2) with Townes-Brocks syndrome demonstrating a distinct preauricular tag anterior to the tragus, accompanied by mild overfolding of the superior helix characteristic of the condition.