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Year : 2023  |  Volume : 38  |  Issue : 1  |  Page : 120-124

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome: Case report and review of literature

Department of Orthopaedic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Correspondence Address:
Madhav Chowdhry
Department of Orthopaedic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh 202002, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jbjd.jbjd_12_23

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Triphalangeal thumb (TPT) is a rare clinical entity, with majority of cases being hereditary in origin. Two syndromes associated with TPT are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS). Hypoplasia or aplasia of tibia is the primary difference between them. Although having many common clinical features, TPTPS and THPTTS are considered two different entities. Here, we report a rare situation of these two conditions occurring in the same family: a mother with TPTPS and her son with THPTTS. A 4-month-old male child presented to outpatient clinic with complaints of 2.5 cm shortening and clubfoot present on the right side. The child had five-fingered hands without thumbs or thenar muscles along with preaxial polydactyly with seven toes in the left foot and six toes in the right foot. Radiographic examination revealed hypoplasia of the right tibia (tibial hemimelia) with thickened and superolaterally displaced fibula. While applying cast for club foot to the child, his mother’s hands came into notice. The lady was 26 years old, born to nonconsanguineous parents, with no similar history in parents or siblings. Clinical examination of hands revealed TPTs in both hands. She had no difficulty in her activities of daily living. Her legs appeared normal. Her feet were normal except for the duplicated right great toe with fused nails and duplicated left great toe floating separately. TPTs, polydactyly of hands, and feet along with syndactyly of digits are cardinal findings seen in both TPTPS and THPTTS. Both can also be traced to 7q36. The presence of a tibial defect seems to be the only difference between the two disorders. In this case report, we highlight the occurrence of two seemingly different clinical entities within the same family, suggesting the possibility of an overlying common entity with a wide spectrum of clinical presentations.

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