Children's Hospital 2

Adaptive foot remodeling and tibiocalcaneal arthrodesis for long-standing ankle valgus deformity after childhood arthrodesis: A rare case report

Ankle valgus deformity is a recognized late complication after fibular loss or ankle arthrodesis in childhood. We report a 26-year-old man with severe ankle valgus that progressed over more than 20 years after ankle arthrodesis performed at age 5 for infectious destruction, with...

Chronic trans-rectal impalement with jejunal and duodenal perforations in a young child: a case report

Rectal penetrating trauma is a rare but potentially life-threatening injury in children. Diagnosis is challenging, especially when external signs are minimal or when clinical manifestations appear in a delayed fashion. We describe a 46-month-old Vietnamese girl with a complex cli...

Complete androgen insensitivity syndrome in two siblings with a pathogenic androgen receptor gene variant: a case series

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by pathogenic variants in the androgen receptor (AR) gene, resulting in complete resistance to androgen action in individuals with a 46,XY karyotype. Familial cases of CAIS provide important insigh...

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1

Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next-generation sequencing (NGS) currently...