Unilateral Hypoplastic Kidney in a Case of Holt-Oram Syndrome

[摘要] Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb & congenital cardiac defects. Here we report a case of one day old male baby with skeletal abnormalities of forearms and hands, atrial septal defect of ostium secundum type and unilateral hypoplastic kidney. Till date, other associated anomalies like extra-hepatic portal hypertension, renal artery malformations etc have been reported with Holt-Oram syndrome, but it is the first case to be reported in association with hypoplastic kidney.

[学科分类] 儿科学

[关键词] Holt-Oram Syndrome;Ultrasonography;Hypoplastic kidney.