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Neuropediatrics 2020; 51(05): 359-363
DOI: 10.1055/s-0039-3402009
Short Communication

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Carmela R. Massimino
1   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy
,
Pierluigi Smilari
1   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy
,
Filippo Greco
1   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy
,
Silvia Marino
2   University-Hospital “Policlinico-Vittorio Emanuele,” University of Catania, Catania, CT, Italy
,
Davide Vecchio
3   Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
,
Andrea Bartuli
3   Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
,
Pasquale Parisi
4   Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine & Psychology, Sapienza University, c/o Sant’ Andrea Hospital, Rome, Italy
,
Sung Y. Cho
5   Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
,
Piero Pavone 
1   Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy
5   Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
› Author Affiliations Funding No funding was utilized for this study.
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Abstract

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Keywords

Poland's syndrome - hypoplasic optic nerve - CNS involvement


Publication History

Received: 11 May 2019

Accepted: 18 August 2019

Article published online:
03 February 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Stuttgart · New York

 

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