Case Report: Potocki-Lupski Syndrome in Five Siblings

Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowi...

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Autores principales:	Alina Grama, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	children craniofacial dysmorphism hypotonia cognitive delay 17p112 duplication Potocki-Lupski syndrome Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f4
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spelling	oai:doaj.org-article:225b30cb0e2e4f26930414ce59e158f42021-11-08T08:00:26ZCase Report: Potocki-Lupski Syndrome in Five Siblings2296-236010.3389/fped.2021.698629https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f42021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.698629/fullhttps://doaj.org/toc/2296-2360Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowing difficulties or growth hormone deficiency. We report the first Romanian family (a mother and her five children) diagnosed with PTLS (17p11.2 microduplication). Fortunately, they present a less severe form of the disease. The neurological manifestations (speech delay, mild intellectual disability) are associated with craniofacial dysmorphism (microcephaly, micrognathia, triangular face, broad forehead, long chin, prominent ears, dolichocephaly, down slanting palpebral fissures). The diagnostic was established using a multiplex ligation-dependent probe amplification technique (MLPA) test, which detected the duplication of three regions of the 17p11.2 chromosome (RAI1, DRC3-6, LLGL1-4RA). Children with PTLS have specific phenotypes (craniofacial dysmorphism or neurological manifestations), which must draw the pediatrician's attention to a possible genetic condition. However, every child with this disease is unique and may have a different clinical presentation. A multi-disciplinary team is needed for the management of these patients. The parent's counseling and genetic advice are essential for a family with children with PTLS.Alina GramaAlina GramaClaudia SîrbeClaudia SîrbeDiana MicleaSimona Sorana CǎinapSimona Sorana CǎinapDelia HuniadiBogdan BulataTudor Lucian PopTudor Lucian PopFrontiers Media S.A.articlechildrencraniofacial dysmorphismhypotoniacognitive delay17p112 duplicationPotocki-Lupski syndromePediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	children craniofacial dysmorphism hypotonia cognitive delay 17p112 duplication Potocki-Lupski syndrome Pediatrics RJ1-570
spellingShingle	children craniofacial dysmorphism hypotonia cognitive delay 17p112 duplication Potocki-Lupski syndrome Pediatrics RJ1-570 Alina Grama Alina Grama Claudia Sîrbe Claudia Sîrbe Diana Miclea Simona Sorana Cǎinap Simona Sorana Cǎinap Delia Huniadi Bogdan Bulata Tudor Lucian Pop Tudor Lucian Pop Case Report: Potocki-Lupski Syndrome in Five Siblings
description	Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowing difficulties or growth hormone deficiency. We report the first Romanian family (a mother and her five children) diagnosed with PTLS (17p11.2 microduplication). Fortunately, they present a less severe form of the disease. The neurological manifestations (speech delay, mild intellectual disability) are associated with craniofacial dysmorphism (microcephaly, micrognathia, triangular face, broad forehead, long chin, prominent ears, dolichocephaly, down slanting palpebral fissures). The diagnostic was established using a multiplex ligation-dependent probe amplification technique (MLPA) test, which detected the duplication of three regions of the 17p11.2 chromosome (RAI1, DRC3-6, LLGL1-4RA). Children with PTLS have specific phenotypes (craniofacial dysmorphism or neurological manifestations), which must draw the pediatrician's attention to a possible genetic condition. However, every child with this disease is unique and may have a different clinical presentation. A multi-disciplinary team is needed for the management of these patients. The parent's counseling and genetic advice are essential for a family with children with PTLS.
format	article
author	Alina Grama Alina Grama Claudia Sîrbe Claudia Sîrbe Diana Miclea Simona Sorana Cǎinap Simona Sorana Cǎinap Delia Huniadi Bogdan Bulata Tudor Lucian Pop Tudor Lucian Pop
author_facet	Alina Grama Alina Grama Claudia Sîrbe Claudia Sîrbe Diana Miclea Simona Sorana Cǎinap Simona Sorana Cǎinap Delia Huniadi Bogdan Bulata Tudor Lucian Pop Tudor Lucian Pop
author_sort	Alina Grama
title	Case Report: Potocki-Lupski Syndrome in Five Siblings
title_short	Case Report: Potocki-Lupski Syndrome in Five Siblings
title_full	Case Report: Potocki-Lupski Syndrome in Five Siblings
title_fullStr	Case Report: Potocki-Lupski Syndrome in Five Siblings
title_full_unstemmed	Case Report: Potocki-Lupski Syndrome in Five Siblings
title_sort	case report: potocki-lupski syndrome in five siblings
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f4
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Case Report: Potocki-Lupski Syndrome in Five Siblings

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