波兰畸形和闭锁性头膨出在同一个孩子:巧合还是关联?

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni
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引用次数: 0

摘要

波兰畸形是一种罕见的先天性疾病,其典型特征是胸肌发育不全或发育不全,伴或不伴同侧肢体发育不全。中枢神经系统畸形与波兰畸形的关联很少被报道,包括颅面发育不良、小头畸形和Dandy-Walker畸形。然而,没有神经管闭合异常被描述为与波兰异常相关。闭锁性脑膨出是另一种罕见的诊断,它是一种通过颅骨缺陷引起的颅内内容物的先天性疝。在这里,我们提出的情况下,儿童影响波兰异常,其中一个闭锁的头膨出已被诊断为年龄2个月。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy-Walker malformation. However, no anomalies in neural tube closure have been described in association with Poland Anomaly. Atretic cephalocele is another rare diagnosis, which is an involuted congenital herniation of intracranial contents through defects in the skull. Herein, we present the case of a child affected with Poland Anomaly in whom an atretic cephalocele has been diagnosed at the age of 2 months.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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