Congenital longitudinal deficiency of the tibia.

Schoenecker, Perry L.; Capelli, A; Millar, Edward A.; Sheen, M R; Häher, Thomas R.; Aiona, Michael D.; Meyer, Leslie C.

doi:10.2106/00004623-198971020-00016

Cited by 95 publications

(61 citation statements)

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“…Over the past forty years, several studies have described over one hundred cases of congenital deficiency of the tibia. 1,3,4,6 Among these patients, five In the present case, the finding of mid-spine hemivertebrae (T9 and T10) could be a coincidence of two independent defects. However, if this was just a random occurrence, the probability would be one in a billion (tibial hemimelia frequency 1 = 1/1,000,000 x hemivertebrae frequency 7 = 1/1000 Tibial hemimelia may also constitute a part of a malformation complex or syndrome such as the Gollop-Wolfgang complex and tibial agenesis-ectrodactyly, triphalangeal thumbpolysyndactyly, tibial hemimelia/split-hand/split-foot and Langer-Giedion syndromes.…”

Section: Discussionmentioning

confidence: 48%

“…In conclusion, X-ray imaging enables excellent assessment of tibial hemimelia and its associated skeletal malformations, 3,4,6 in addition to its ready availability and minimal cost. The radiological features described in the present case expand the spectrum of malformations associated with tibial hemimelia and further illustrate the usefulness and sensitivity of such an inexpensive diagnostic method.…”

Section: Discussionmentioning

confidence: 99%

“…3 Patients with this longitudinal deficiency of the lower limb have unique clinical findings that vary in severity and are associated with a wide range of congenital anomalies. 4 However, according to the International Clearinghouse for Birth Defects Surveillance and Research, congenital amelia (absence of one or both limbs) is frequently associated with intestinal defects, some renal and genital defects, oral clefts, defects of cardiac septa, anencephaly and other types of musculoskeletal defects. 5 This report describes an infant with the novel association of bilateral tibial hemimelia type 1 (distally hypoplastic left femur corresponding to type 1a and normal right femur corresponding to type 1b) with hemivertebrae at T9 and T10.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2013

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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

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Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

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“…[6] Family history of congenital anomaly of tibia, as well as intra-familial phenotypic variations of the defect in twin pregnancy has been reported. [7,8,9] The anomalies in which the number of skeletal elements increased arise during the first 7 weeks of intrauterine life. A decrease in the number of skeletal parts may arise after, as well as during, this 7weeks period.…”

Section: Discussionmentioning

confidence: 99%

“…Common surgical procedures include disarticulation at Knee, Syme's amputation or Chopart amputation. [2,7] The sooner the amputation is performed, easier and faster the rehabilitation and adaptation to the prosthesis. The absence of the cartilaginous anlage increases the difficulty of the operative procedure.…”

Section: Figurementioning

confidence: 99%

A Case of Unilateral Tibial Hemimelia With Unilateral Radial Club Hand and Constrictive Band

Prashanth¹,

Srinivasan²,

Kumar³

et al. 2014

jemds

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Congenital absence of tibia is a rare anomaly and may be total or partial, unilateral or bilateral. Total absence is more frequent than partial. Unilateral absence occurs more often than bilateral, with right limb more commonly affected than the left. In partial defect, almost always the distal end of the bone is affected. In the bilateral cases, there may be total absence on both sides, or total on one side and partial on the other. Males are slightly more commonly affected than the females. Though, the family history is usually negative for congenital abnormalities and other diseases, there is a considerable chance of occurrence of congenital defect of the tibia or of other abnormalities, in near or remote relatives. We report a case of newborn having unilateral tibial hemimelia type 3 with radial club hand and contracture band on the hand.

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Knee Joint

Benninger¹

2016

Bergman's Comprehensive Encyclopedia of Human Anatomic Variation

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Congenital longitudinal deficiency of the tibia.

Cited by 95 publications

References 0 publications

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

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

A Case of Unilateral Tibial Hemimelia With Unilateral Radial Club Hand and Constrictive Band

Knee Joint

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