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J Pediatr Genet
DOI: 10.1055/s-0041-1740371
Case-Based Review

A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

Ozkan Ilhan
1   Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Evren Gumus
2   Department of Medical Genetics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Nilay Hakan
1   Department of Pediatrics, Division of Neonatology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Hande Istar
3   Department of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Bugra Harmandar
3   Department of Cardiovascular Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Hasim Olgun
4   Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Suleyman Cuneyt Karakus
5   Department of Pediatric Surgery, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Nesat Cullu
6   Department of Radiology, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey
,
Juergen Kohlhase
7   Center for Human Genetics, SYNLAB MVZ Humangenetik Freiburg GmbH, Freiburg, Germany
,
James D. Sutherland
8   CIC bioGUNE, Bizkaia Technology Park, Derio, Spain
,
Rosa Barrio
8   CIC bioGUNE, Bizkaia Technology Park, Derio, Spain
› Author Affiliations Funding R. B. acknowledges funding by grants BFU2017–84653-P (MINECO/FEDER, EU), SEV-2016–0644 (Severo Ochoa Excellence Program), 765445-EU (UbiCODE Program), and SAF2017–90900-REDT (UBIRed Program).
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Abstract

Townes–Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Keywords

Townes–Brocks syndrome - absent pulmonary valve syndrome - SALL1 gene - preaxial polydactyly - triphalangeal thumb


Publication History

Received: 04 June 2021

Accepted: 26 October 2021

Article published online:
10 December 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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