Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case Report

Resumen

Introduction: Ohdo syndrome is a rare congenital disorder occurring in less than 1 in a million individuals, characterized by intellectual disability, craniofacial abnormalities, as well as appendicular abnormalities. Caused by pathogenic variants in KAT6B, the orphan syndrome suffers from a paucity of reported cases, with less than 30 cases reported worldwide. Here, we present detailed skeletal survey findings of a genetically confirmed case of Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson (SBBYS) variant (OMIM: 60376). To the best of our knowledge, this is the first reported case of Ohdo syndrome in the Philippines.

Case Presentation: A 16-year-old Filipino female who presented with intellectual disability was referred for diagnostic work-up. Physical examination revealed blepharophimosis, ptosis, rounded nose tip, broad nasal bridge, and widely spaced teeth, consistent with craniofacial findings in Ohdo syndrome. Skeletal survey demonstrated micrognathia, scoliosis, negative ulnar variance, bilateral shortened distal phalanges of the 2^nd digits of the hand, and bilateral long first metatarsal bones of the feet.

Conclusion: This case illustrates the value of skeletal surveys in revealing structural abnormalities in Ohdo syndrome. Skeletal surveys may be used for documenting the extent and the severity of the phenotype. Further, such studies may inform referrals (e.g., orthopedic or rehabilitation medicine) and surveillance (e.g., for scoliosis).