Female infant with apert syndrome and high imperforate anus without fistula

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of sku...

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Autores principales:	Setya Mithra Hariastuti, Risa Etika, Martono Tri Utomo, Quri Meihaerani Savitri
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Acrocephalosyndactyly Anorectal malformation Apert syndrome Pediatrics RJ1-570 Surgery RD1-811
Acceso en línea:	https://doaj.org/article/34d4a687f6b44b4d85285c5f7d037b84
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spelling	oai:doaj.org-article:34d4a687f6b44b4d85285c5f7d037b842021-11-24T04:29:24ZFemale infant with apert syndrome and high imperforate anus without fistula2213-576610.1016/j.epsc.2021.102064https://doaj.org/article/34d4a687f6b44b4d85285c5f7d037b842021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2213576621002852https://doaj.org/toc/2213-5766Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of skull's sutures-, midface hypoplasia-an incomplete development of the middle of the face-, and syndactyly-webbed fingers or toes-. The anorectal malformations (ARMs) associations with AS is rare, and the genetic link is highly complex. Only 12.7% of ARMs cases were associated with a syndrome that has a well-known impact on intellectual development, including AS. To our knowledge, this is the first reported case of AS with a high imperforate anus without fistula.Setya Mithra HariastutiRisa EtikaMartono Tri UtomoQuri Meihaerani SavitriElsevierarticleAcrocephalosyndactylyAnorectal malformationApert syndromePediatricsRJ1-570SurgeryRD1-811ENJournal of Pediatric Surgery Case Reports, Vol 75, Iss , Pp 102064- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Acrocephalosyndactyly Anorectal malformation Apert syndrome Pediatrics RJ1-570 Surgery RD1-811
spellingShingle	Acrocephalosyndactyly Anorectal malformation Apert syndrome Pediatrics RJ1-570 Surgery RD1-811 Setya Mithra Hariastuti Risa Etika Martono Tri Utomo Quri Meihaerani Savitri Female infant with apert syndrome and high imperforate anus without fistula
description	Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of skull's sutures-, midface hypoplasia-an incomplete development of the middle of the face-, and syndactyly-webbed fingers or toes-. The anorectal malformations (ARMs) associations with AS is rare, and the genetic link is highly complex. Only 12.7% of ARMs cases were associated with a syndrome that has a well-known impact on intellectual development, including AS. To our knowledge, this is the first reported case of AS with a high imperforate anus without fistula.
format	article
author	Setya Mithra Hariastuti Risa Etika Martono Tri Utomo Quri Meihaerani Savitri
author_facet	Setya Mithra Hariastuti Risa Etika Martono Tri Utomo Quri Meihaerani Savitri
author_sort	Setya Mithra Hariastuti
title	Female infant with apert syndrome and high imperforate anus without fistula
title_short	Female infant with apert syndrome and high imperforate anus without fistula
title_full	Female infant with apert syndrome and high imperforate anus without fistula
title_fullStr	Female infant with apert syndrome and high imperforate anus without fistula
title_full_unstemmed	Female infant with apert syndrome and high imperforate anus without fistula
title_sort	female infant with apert syndrome and high imperforate anus without fistula
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/34d4a687f6b44b4d85285c5f7d037b84
work_keys_str_mv	AT setyamithrahariastuti femaleinfantwithapertsyndromeandhighimperforateanuswithoutfistula AT risaetika femaleinfantwithapertsyndromeandhighimperforateanuswithoutfistula AT martonotriutomo femaleinfantwithapertsyndromeandhighimperforateanuswithoutfistula AT qurimeihaeranisavitri femaleinfantwithapertsyndromeandhighimperforateanuswithoutfistula
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Female infant with apert syndrome and high imperforate anus without fistula

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