Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.
Eur J Med Genet
; 62(7): 103666, 2019 Jul.
Article
en En
| MEDLINE
| ID: mdl-31078790
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tibia
/
Ectromelia
Tipo de estudio:
Observational_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
/
Female
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Humans
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Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
Pais de publicación:
Países Bajos