Townes–Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family

A Paripović; A Janković; N Ilić; S Ostojić; S Todorović; D Radivojević; B Pejović; R Naumović; A Sarajlija

doi:10.2478/bjmg-2025-00016

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Townes–Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family

Balkan Journal of Medical Genetics

Volume 28 (2025): Issue 2 (December 2025)

By: A Paripović, A Janković, N Ilić, S Ostojić, S Todorović, D Radivojević, B Pejović, R Naumović and A Sarajlija

Open Access

|May 2026

Figures & Tables

Pedigree showing three generations in a Serbian family with multiple members affected by Townes Brocks syndrome

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.

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	-	-	-	-

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DOI: https://doi.org/10.2478/bjmg-2025-00016 | Journal eISSN: 2199-5761

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Language: English

Page range: 93 - 100

Published on: May 14, 2026

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Townes–Brocks syndrome,

SALL1,

renal Hypodysplasia,

chronic kidney disease,

genotype–pheno-type correlation,

intrafamilial variability

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2026 A Paripović, A Janković, N Ilić, S Ostojić, S Todorović, D Radivojević, B Pejović, R Naumović, A Sarajlija, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 28 (2025): Issue 2 (December 2025)

Townes–Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family

Figures & Tables

Figure 1.

Figure 2.

Phenotypic features of family members with Townes–Brocks syndrome (CKD – chronic kidney disease, ASD – atrial septal defect, VUR – vesicoureteral reflux)

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