PubMed · 12736412
We report three cases with congenital longitudinal deficiency of fibula. Two cases were of Type IB and one was Type II.
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Anoop Verma, Shirish Yadu. 2003. Fibular hemimelia.. https://pubmed.ncbi.nlm.nih.gov/12736412/
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BACKGROUND: Symmelia is a rare birth defect, often combined with severe malformations of the urogenital system and the lower gastrointestinal tract. Additionally, a deformed pelvis and various degrees of separation of the lower limbs are present. CASES: We report the examination findings of 3 autopsy specimens of symmelia using magnetic resonance imaging (MRI) and computed tomography (CT) with 3-dimensional (3D) reconstructions, and conventional X-ray. CONCLUSIONS: MRI and CT with the addition of 3D visualization can be used additionally with autopsy and conventional X-ray images in the investigation of such complex anatomical abnormalities.
Sirenomelia is a rare congenital abnormality characterized by a variety of anomalies involving the lower limbs, severe oligohydramnios, bilateral renal agenesis, anorectal atresia and aberrant fetal vasculature. The prenatal diagnosis and differentiation from isolated bilateral renal agenesis is severely limited by the accompanying oligohydramnios that hinders visualization of fetal anatomy. We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome.
Progressive loss of hip containment attributable to dysplasia epiphysealis hemimelica of the right proximal femur and macrodactyly of the right second toe was diagnosed and monitored by radiographs and magnetic resonance imaging in a 7-year-old boy. The patient had early surgical correction including shortening osteotomy of the hypertrophic toe and partial resection of the involved superolateral femoral head-neck junction combined with a Pemberton-like acetabuloplasty. This treatment restored containment and function. At 4 years followup, the femoral head remained contained and the patient was participating fully in the activities of daily life for his age-group. A review of the literature suggests monitoring the hip with magnetic resonance imaging may allow early identification of a hip at risk for loss of containment. This treatment may save the hip from severe deformity and early secondary osteoarthritis.