Case Report/Small Case SeriesA Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital GlaucomaRatukondla, Banushree MBBS, MD*; Prakash, Sarvesswaran MBBS†; Reddy, Sindhura MS†; Puthuran, George V. MS†; Kannan, Naresh B. MS‡; Pillai, Manju R. MD†Author Information Departments of *Physician †Glaucoma Services ‡Vitreous and Retinal services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India Disclosure: The authors declare no conflict of interest. Reprints: Manju R. Pillai, MD, Aravind Eye Hospital, 1, Anna Nagar, Madurai 625020, Tamil Nadu, India (e-mail: firstname.lastname@example.org). Received April 26, 2019 Accepted November 17, 2019 Online date: December 4, 2019 Journal of Glaucoma: March 2020 - Volume 29 - Issue 3 - p 236-238 doi: 10.1097/IJG.0000000000001420 Buy Metrics Abstract 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 chromosome 5q35.1 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 the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.