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DOI 10.1016/j.ejmg.2019.05.005

Медицинская библиотека · European journal of medical genetics · 2019

Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.

Kumar Sahoo Pabitra, Sahu Mamata Manjari, Prasad Das Sakti

СтатьяНаблюдательное исследованиеПеревод в очереди

Аннотация

PURPOSE: Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years.

METHODS

Retrospective review of medical records of patients seen at single center in 10 years.

RESULTS

Thirty-five cases of TH, mostly Jones types Ia (18) and II (10), were diagnosed in 24 patients (13 had unilateral TH). Associated foot deformities included equinovarus (22), varus foot (10), absence of the medial row of toes (5) and polydactyly (3). Upper limbs anomalies included split-hand deformity (five patients) and radial club hand (two patients). Nine limbs of seven patients were surgically reconstructed. Modified orthosis was provided to seven patients, custom designed prosthesis fitment in six and amputation with prosthesis fitment in one. Patients presenting at adolescence or later were habituated to their deformity for indoor ambulation; families declined amputation.

CONCLUSION

Reports of more TH cases will provide input to researchers to consider comprehensive rehabilitation for enhancing indoor and community ambulation.

Для цитирования: Kumar Sahoo Pabitra, Sahu Mamata Manjari, Prasad Das Sakti. Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.. European journal of medical genetics. 2019. DOI: 10.1016/j.ejmg.2019.05.005.

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