Massimino Carmela R, Smilari Pierluigi, Greco Filippo, Marino Silvia, Vecchio Davide, Bartuli Andrea, Parisi Pasquale, Cho Sung Y, Pavone Piero
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy.
University-Hospital "Policlinico-Vittorio Emanuele," University of Catania, Catania, CT, Italy.
Neuropediatrics. 2020 Oct;51(5):359-363. doi: 10.1055/s-0039-3402009. Epub 2020 Feb 3.
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.
波兰综合征（PS；OMIM 173800）是一种罕见的先天性综合征，其特征为胸肌缺失或发育不全。其他特征可能会有所不同，包括肋骨缺陷。在患侧，其他特征（如乳房和乳头异常、皮下组织和皮肤附属器缺失、手部异常、内脏和脊柱畸形）也有不同程度的记录。迄今为止，PS与中枢神经系统畸形的关联鲜有报道，对其了解和特征描述仍很有限。我们报告了一名左侧PS患者，除斜视、视神经和视交叉发育不全、胼胝体异常、异位神经垂体、肾盂扩张和神经发育迟缓外，还诊断出一条新的1.5 Mb Xp22.31重复片段。据我们所知，此前尚未报道过这些特征的关联，我们认为该病例可能有助于进一步扩大PS表型的变异性。
