N'joumi Chaimae, Ayyad Anass, Messaoudi Sahar, Amrani Rim
Department of Pediatrics, Centre Hospitalier Universitaire, Oujda, MAR.
Department of Neonatology and Neonatal Resuscitation, Faculty of Medicine and Pharmacy of Oujda, Mother and Child Health Laboratory, Oujda, MAR.
Cureus. 2025 Jun 20;17(6):e86442. doi: 10.7759/cureus.86442. eCollection 2025 Jun.
Adams-Oliver syndrome (AOS) is a congenital condition marked by aplasia cutis congenita and terminal limb defects, often accompanied by diverse systemic manifestations. We present a case of a newborn female with scalp aplasia cutis and brachydactyly, but no internal organ involvement. Clinical and imaging assessments identified a scalp bone defect without neurological or cardiac abnormalities. Surgical correction of the scalp lesion was successfully performed. This case underscores the variable clinical presentation of AOS and highlights the need for comprehensive evaluation and multidisciplinary care. Early diagnosis and genetic counseling remain crucial for accurate prognosis and informed family planning.
亚当斯-奥利弗综合征（AOS）是一种先天性疾病，其特征为先天性皮肤发育不全和肢体末端缺陷，常伴有多种全身表现。我们报告一例患有头皮先天性皮肤发育不全和短指畸形但无内脏器官受累的新生女婴病例。临床和影像学评估发现头皮骨缺损，无神经或心脏异常。成功实施了头皮病变的手术矫正。该病例强调了AOS临床表现的多样性，并突出了全面评估和多学科护理的必要性。早期诊断和遗传咨询对于准确的预后判断和明智的计划生育仍然至关重要。
