Adams-Oliver syndrome presenting with a large congenital scalp defect as the initial sign:two case reports and literature review

VernacularTitle:以较大先天性头皮缺损为首发体征的Adams-Oliver综合征2例报道及文献复习
Author: Liu XU ¹ ; Guang LI ; Shuxin TIAN
Author Information

1. 河北省唐山市妇幼保健院产后新生儿科，唐山　063000
Publication Type:Journal Article
Keywords: Adams-Oliver syndrome; Aplasia Cutis Congenita of the Scalp; Aplasia cutis congenita; Neonate
From: Clinical Medicine of China 2025;41(2):147-150
CountryChina
Language:Chinese
Abstract: Adams-Oliver syndrome is a rare genetic disease. We retrospectively analyzed the clinical data of two neonates with Adams-Oliver syndrome and large congenital scalp defects admitted to Tangshan Maternal and Child Health Hospital, and summarized their clinical manifestations and treatment methods in combination with literature. The two patients were full-term infants, both with lower limbs and heart congenital malformations, combined with leukodystrophy. One patient with Adams-Oliver syndrome underwent karyotype analysis, and the chromosomes were polymorphic (46, XX, 15pstk+). Both cases of congenital scalp defects were treated conservatively. For neonates with large congenital scalp defects, accompanied by congenital malformation at the extremities and heart as well as abnormal development of the central nervous system. Adams-Oliver syndrome should be considered and relevant pathogenic gene testing should be completed to provide a basis for precise diagnosis and treatment.