FP510 : A rare case report of Frank-Ter Harr syndrome in a sibling pair presenting with congenital glaucoma

Dr.sarvesswaran prakash, P21493

BACKGROUND: Frank ter harr syndrome(FTHS) is a rare Autosomal recessive disorder, with characteristic skeletal, cardiac, ocular and cranio-facial abnormalities.

CASE REPORT: we report a sibling pair born to consanguineous parents, both sibling having a novel mutation which results in premature truncation of protein encoded by SH3PXD2B gene on chrm5q35.1, most commonly involved in FTHS. They presented with brachycephaly,prominent fore head, hypertelorism, pectus carinatum, kyphoscolioses, multiple joint contractures and ECHO findings were MVP,MR,PDA and ocular features bilateral megalocornea and congenital glaucoma with increased intraocular pressure for which both siblings had undergone trabeculotomy and trabeculectomy and post operatively IOP were under control.

CONCLUSION: The characteristic clinical features along with the confirmed underlying genetic defect clinches the diagnosis and early treatment for congenital glaucoma has prevented vision loss in both the siblings.