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Case Reports
. 2025 Jul 26:e64197.
doi: 10.1002/ajmg.a.64197. Online ahead of print.

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Alessandra Greta Grassi  1 , Silvia Pontesilli  2 , Laura Demelas  2 , Francesca Vigliani  3 , Massimo Agosti  4 , Angelo Selicorni  5
Affiliations
Case Reports

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

Alessandra Greta Grassi et al. Am J Med Genet A. .

Abstract

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.

Keywords: Poland Anomaly; atretic cephalocele; brain MRI; hand anomaly; neural tube defect; pectoralis muscle hypoplasia.

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References

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