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Persistent Central Carpal Row Ossicle in Sporadic Holt Oram Syndrome
Gregory A. Lamaris, MD, PhD; Paul Durand, MD; Rafael A. Couto, MD; Grzegorz Kwiecien, MD; Mark Hendrickson, MD
Cleveland Clinic Foundation, Cleveland, OH

Background: Holt Oram syndrome is an autosomal dominant disorder that is characterized by a combination of congenital cardiac septal defects, conduction anomalies and upper limb deformities, linked to mutations affecting the transcription factor TBX5 that is located at gene locus 12q24.1. Associated upper limb defects vary greatly from isolated involvement of the thumb or other digits to radial longitudinal deficiency and bilateral phocomelia.
Patient-Case presentation: A 20-year-old female with no significant family history diagnosed with asymptomatic congenital ventral septal defect and a conduction anomaly requiring dual chamber pacing, was referred to clinic complaining of a 2 month history of wrist pain. On exam she was found to have pain on supination, radial deviation and axial wrist loading. Imaging studies revealed a supernumerary radial carpal bone between the scaphoid and trapezium as well as a persistent central ossicle proximal to the capitate, articulating with the scaphoid and lunate. On surgical exploration, the scapholunate ligament appeared to be intact as well as the articular surfaces of the scaphoid, lunate and capitate. The persistent central ossicle was excised with complete resolution of patient symptoms at follow up.
Discussion: Although the degree of limb involvement in patients with Holt Oram syndrome varies greatly, the majority of affected patients are reported to fall under the spectrum of radial longitudinal deficiency or present with thumb anomalies. Although carpal anomalies are more specific than the thumb changes for the diagnosis of Holt Oram syndrome, they are far less described in the literature as asymptomatic cases can only be diagnosed with imaging studies. Furthermore, there is even less published data on the appropriate management of patients presenting with carpal pain or instability as a result of supernumerary carpal bones in this setting. This is the first report of a sporadic case of Holt Oram syndrome presenting with a supernumerary carpal bone between the scaphoid and trapezium as well as a concurrent persistent central ossicle. The persistent central ossicle is a remnant of the primitive hand central carpal row that normally appears during embryonic development only to be fused with the scaphoid by the eighth week of gestation. In this case, patient symptoms resolved upon excision of the central ossicle. As the management of symptomatic cases of Holt Oram syndrome is currently decided on a case-by-case basis, more studies are needed to help in the categorization of associated deformities and guide management.


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