Disease relevance of THMA

• We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects [1].
• Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome [2]?
• We report on a Brazilian boy with widely cleft lip and palate and bilateral tibial hemimelia [3].
• We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia [4].
• Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia [5].

High impact information on THMA

• We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna [6].
• We report on a girl with frontonasal "dysostosis," callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet [2].
• Fifty-seven patients (seventy-one limbs) who had congenital longitudinal deficiency of the tibia (tibial hemimelia) were retrospectively categorized according to radiographic type (Types 1 through 4, as described by Jones et al.). At an average follow-up of nine years, fifty-six of fifty-seven patients walked independently [7].
• Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature [8].
• Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula [9].

Chemical compound and disease context of THMA

• Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine [10].

Biological context of THMA

• The infant, born at 29 weeks gestation, has tetralogy of Fallot and tibial hemimelia [10].
• Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) is very rare, with an incidence of approximately 1 per 1 million live births [11].

Anatomical context of THMA

• This case report describes a female calf with arthogryposis, an extra set of incision teeth, ventral abdominal hernia, tibial hemimelia and the nonunion of mullerian ducts [12].
• In tibial hemimelia with functioning quadriceps (types I and II) and a functional foot, centralization of the fibula onto the talus and synostosis with the proximal tibia is an accepted reconstructive procedure (1,4,6,7,9,15) [13].
• This anomaly was associated with ipsilateral tibial hemimelia, lumbar myelomeningocele, extrophy of the cloaca, ambiguous genitalia, imperforate anus, and omphalocele [14].

Other interactions of THMA

• Oligodontia associated with femoral bifurcation, tibial hemimelia and cleft hand [15].

Analytical, diagnostic and therapeutic context of THMA

• Prenatal diagnosis of unilateral tibial hemimelia [16].
• Treatment of tibial hemimelia without amputation: preliminary report [17].
• Based on this series and other reports, it is recommended that knee disarticulation instead of fibular centralization be performed for complete paraxial tibial hemimelia, preferably within the first year of life [18].
• Five lower extremities from four patients with tibial hemimelia were available for dissection [19].
• The lesions imaged were fibular hemimelia (n = 5), tibial hemimelia (n = 5), and congenital constriction bands (n = 3) [20].

References