Tibial hemimelia is a rare anomaly of unknown etiology. This condition can occur sporadically or may have a familial inheritance. It is characterized by deficiency of the tibia with a relatively intact fibula. The anomaly may be unilateral or bilateral. We report a case of a 2-year-old girl who presented with right lower limb deformity since birth. She was diagnosed with proximal femur focal deficiency with absence of the ipsilateral tibia. She presented with a shorter right lower limb and a deformed foot. She was treated with a through-knee amputation. Anatomical dissection of the amputated limb was carried out to verify the anomalies. The dissection showed that the distal phalanx of the great toe was trifid. The anatomical and clinical significance of this interesting case is discussed.
Limb lengthening of fibular hemimelia is associated with progressive ankle valgus deformity. We reported a successful tibial lengthening in fibular hemimelia without recurrence of ankle valgus in 2 cases. The procedure involved 2 stages. First stage was a resection of the fibular remnant followed by a bending osteotomy through the distal tibial physis before the age of 2 years old. The second stage was a tibia lengthening up to 25% of its original segmental length performed at the age of 5 years old. There was neither progressive ankle valgus nor distal tibial growth arrest observed at 4 years follow-up.
A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed absent radii, cardiomegaly and hemivertebra at L1. Echocardiogram revealed perimembranous type of ventricular septal defect. A diagnosis of Ectodermal Dysplasia Ectrodactyly Clefting Syndrome with ventricular septal defect was made. He was managed conservatively in the nursery. However, he expired on day 27 of life following short spell of fever apnoeic episode due to neonatal sepsis.
Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.