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Child's Nervous System

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01-05-2021 | Craniosynostosis | Original Article

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

Authors: Thomas Quinaux, Viola Custodi, Audrey Putoux, Justine Bacchetta, Massimiliano Rossi, Federico Di Rocco

Published in: Child's Nervous System | Issue 5/2021

Abstract

Background

Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a genetically heterogeneous ciliopathy, characterized by dysmorphic features including dolichocephaly (with inconstant sagittal craniosynostosis), chronic kidney disease (CKD), hepatic fibrosis, retinitis pigmentosa, and brain abnormalities, with a partial clinical overlap with other ciliopathies.

Patients and methods

A retrospective review of four children with Sensenbrenner syndrome treated at the Femme Mère Enfant University Hospital of Lyon from 2005 to 2020 was conducted.

Results

Variants in WDR35 or WDR19 were found in all children. Two of them underwent surgery for a scaphocephaly in the first months of life. All patients developed CKD leading to end-stage renal disease during the first/second decades.

Discussion

The diagnosis of scaphocephaly may precede the diagnosis of the underlying Sensenbrenner syndrome, thus highlighting the importance of a systematic multidisciplinary assessment and follow-up for craniosynostoses, in order to identify syndromic forms requiring specific management. In Sensenbrenner syndrome, patients’ management should be coordinated by multidisciplinary teams of reference centers for rare diseases, with expertise in the management of craniofacial malformations as well as rare skeletal and renal disorders. Indeed, a prompt etiological diagnosis will result in an early diagnosis of multisystemic complications, notably renal involvement, thus improving global prognosis.

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Title: Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach
Authors: Thomas Quinaux
Viola Custodi
Audrey Putoux
Justine Bacchetta
Massimiliano Rossi
Federico Di Rocco
Publication date: 01-05-2021
Publisher: Springer Berlin Heidelberg
Keywords: Craniosynostosis
Chronic Kidney Disease
Published in: Child's Nervous System / Issue 5/2021
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-021-05075-1

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach

Abstract

Background

Patients and methods

Results

Discussion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Patients and methods

Results

Discussion

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