LAUSR

Frank Ter Haar Syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chrm5q35.1 that results in premature truncation of the protein encoded. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed diagnosis of Frank Ter Haar Syndrome. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.