Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association

Abstract

CONTEXT: Congenital absence of the tibia is a rare anomaly with an incidence of one per 1,000,000 live births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes. CASE REPORT: A male child, born to unaffected and non-consanguineous parents, presented with shortening of the legs and adduction of both feet. Physical examination at six months of age showed head circumference of 44.5 cm (75 th percentile), length 60 cm (< 3 rd percentile), weight 7,700 g (50 th percentile), shortening of the left thigh and both legs with varus foot. There were no craniofacial dysmorphisms or chest, abdominal, genital or upper-extremity anomalies. Psychomotor development was normal. His workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalmological and cardiological examinations, was normal. X-rays showed bilateral absence of the tibia with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs showed hemivertebrae at T9 and T10. CONCLUSION: This novel association expands the spectrum of tibial hemimelia. Moreover, this observation highlights the usefulness of this inexpensive diagnostic method (X-rays) for characterizing the great clinical and radiological variability of tibial hemimelia. RESUMOCONTEXTO: Ausência congênita da tíbia é uma anomalia rara, com incidência em 1 por 1.000.000 de nascidos vivos, é principalmente esporádica e pode ser identificada como um distúrbio isolado ou como parte de síndromes de malformações. RELATO DO CASO: Criança do sexo masculino, nascida de pais não afetados e não consanguíneos, apresentou-se com encurtamento das pernas e adução de ambos os pés. O exame físico realizado com seis meses de idade mostrou perímetro cefálico 44,5 cm (percentil 75), comprimento de 60 cm (percentil < 3), peso 7.700 g (percentil 50), encurtamento da coxa esquerda e as duas pernas com o pé varo bilateralhavia. Não houve dismorfismos craniofaciais, nem tórax, abdômen, genitais e anomalias das extremidades superiores. O desenvolvimento psicomotor foi normal. Os exames, incluindo ultrassonografia renal e da cabeça, potenciais auditivos evocados de tronco cerebral e exames oftalmológicos e cardiológicos, estavam normais. Raios-X revelou ausência bilateral da tíbia com fíbula intacta, hipoplasia distal do fêmur esquerdo e fêmur direito normal. Além disso, as radiografias de coluna mostraram hemivértebras em T9 e T10. CONCLUSÃO: Esta associação nova expande o espectro de hemimelia tibial. Além disso, esta observação destaca a utilidade de tal método diagnóstico barato (raios-X), caracterizando a grande variabilidade clíni-ca e

Radiological Findings: A Lamb Skeleton Deformities Case Report / Achados Radiológicos: Relato De Caso De Deformidades Do Esqueleto De Cordeiro

“…Some studies showed a tibial hemimelia syndrome in cattle (Apointe et al, 2000). In humans, tibial hemimelia may occur in isolation or may be associated with a variety of skeletal or extra-skeletal malformations, such us polydactyly (Salinas-Torres et al, 2015), as observed in the present case. There are reports of unilateral and / or bilateral tibial hemimelia in cattle (Lapointe et al, 2000).…”

Type-I Tibial Hemimelia

“…Tibial hemimelia is a challenging congenital anomaly that is associated with a wide spectrum of other congenital defects and duplications 1,8-11,16-21 . The condition is marked by shortening and bowing of the leg 7,18,21,29,30 . To date, the reconstructive options have been limited, and the most accepted treatment has been amputation followed by a suitable prosthetic replacement 1-5,7-9,17,21,22,27,31,32 .…”

“…The fibula is always present 8 . The incidence of tibial hemimelia has been reported to be 1 per million live births 5,17,18 . Parent-to-child transmission as well as families with multiple affected siblings have been reported 9,13 .…”

“…The ankle is in equinovarus, with the foot supinated. The knee and ankle are unstable 5,8,10,11,14,16,18,20,22-24 .…”

Deformity Reconstruction Surgery for Tibial Hemimelia

“…Foot deformities include clubfeet, syndactyly, missing or duplicated toes, diplopodia, ectrodactyly, micromelia, and a mirror foot deformity [35][36][37][38][39][40][41][42][43]. Other associated deformities include coxa valga, hip dysplasia or dislocation, radial dysplasia, lobster claw deformity, hand syndactyly and polydactyly, triphalagism, mirror hand, missing fingers or toes, hemivertebrae, and myelomeningocele [44][45][46][47]. In addition, cleft palate, deafness, cryptorchidism, pseudo-hermaphroditism, and hypospadias have also been associated with tibial hemimelia [14].…”