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Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

AIM: To assess the long‐term outcomes of our management protocol for Saethre–Chotzen syndrome, which includes one‐stage fronto‐orbital advancement. METHOD: All patients born with Saethre–Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital front...

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Autores principales: Den Ottelander, Bianca K, Van Veelen, Marie‐Lise C, De Goederen, Robbin, Van De Beeten, Stephanie DC, Dremmen, Marjolein HG, Loudon, Sjoukje E, Versnel, Sarah L, Van Den Ouweland, Ans MW, Van Dooren, Marieke F, Joosten, Koen FM, Mathijssen, Irene MJ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754116/
https://www.ncbi.nlm.nih.gov/pubmed/32909287
http://dx.doi.org/10.1111/dmcn.14670
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author Den Ottelander, Bianca K
Van Veelen, Marie‐Lise C
De Goederen, Robbin
Van De Beeten, Stephanie DC
Dremmen, Marjolein HG
Loudon, Sjoukje E
Versnel, Sarah L
Van Den Ouweland, Ans MW
Van Dooren, Marieke F
Joosten, Koen FM
Mathijssen, Irene MJ
author_facet Den Ottelander, Bianca K
Van Veelen, Marie‐Lise C
De Goederen, Robbin
Van De Beeten, Stephanie DC
Dremmen, Marjolein HG
Loudon, Sjoukje E
Versnel, Sarah L
Van Den Ouweland, Ans MW
Van Dooren, Marieke F
Joosten, Koen FM
Mathijssen, Irene MJ
author_sort Den Ottelander, Bianca K
collection PubMed
description AIM: To assess the long‐term outcomes of our management protocol for Saethre–Chotzen syndrome, which includes one‐stage fronto‐orbital advancement. METHOD: All patients born with Saethre–Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher’s exact test. RESULTS: Thirty‐two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6–13.0mo), the median (SD) age at last follow‐up was 13 years (5y 7mo; range: 3–25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01). INTERPRETATION: Single one‐stage fronto‐orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre–Chotzen syndrome. Follow‐up should focus on OFC deflection and venous anomalies.
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spelling pubmed-77541162020-12-23 Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol Den Ottelander, Bianca K Van Veelen, Marie‐Lise C De Goederen, Robbin Van De Beeten, Stephanie DC Dremmen, Marjolein HG Loudon, Sjoukje E Versnel, Sarah L Van Den Ouweland, Ans MW Van Dooren, Marieke F Joosten, Koen FM Mathijssen, Irene MJ Dev Med Child Neurol Original Articles AIM: To assess the long‐term outcomes of our management protocol for Saethre–Chotzen syndrome, which includes one‐stage fronto‐orbital advancement. METHOD: All patients born with Saethre–Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher’s exact test. RESULTS: Thirty‐two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6–13.0mo), the median (SD) age at last follow‐up was 13 years (5y 7mo; range: 3–25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01). INTERPRETATION: Single one‐stage fronto‐orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre–Chotzen syndrome. Follow‐up should focus on OFC deflection and venous anomalies. John Wiley and Sons Inc. 2020-09-09 2021-01 /pmc/articles/PMC7754116/ /pubmed/32909287 http://dx.doi.org/10.1111/dmcn.14670 Text en © 2020 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Original Articles
Den Ottelander, Bianca K
Van Veelen, Marie‐Lise C
De Goederen, Robbin
Van De Beeten, Stephanie DC
Dremmen, Marjolein HG
Loudon, Sjoukje E
Versnel, Sarah L
Van Den Ouweland, Ans MW
Van Dooren, Marieke F
Joosten, Koen FM
Mathijssen, Irene MJ
Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title_full Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title_fullStr Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title_full_unstemmed Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title_short Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
title_sort saethre–chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754116/
https://www.ncbi.nlm.nih.gov/pubmed/32909287
http://dx.doi.org/10.1111/dmcn.14670
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