Bilateral Tibial Hemimelia Research Articles

Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique.

The management of tibial hemimelia can be complex and involve either amputation or reconstruction. The decision made carries significant implications on patients and their families. This is a case series in the management of Type IV tibial hemimelia with a description of a novel surgical technique in the reconstructive arm of the pathway. The study included four patients with bilateral tibial hemimelia have an amputation in one limb and reconstructive surgery on the other. The reconstruction involved a supratalar double osteotomy of the tibia and fibula, followed by a staged hindfoot osteotomy using a circular ring fixator. Functional outcomes are reported using the Special Interest Group in Amputee Medicine (SIGAM) and the short form 12 (SF-12) methods. The mean age of patients in our cohort is 14 years (3-27 years) with mean age of surgery at 3 years. One case had an amputation following initial reconstructive surgery due to psychological distress and regressive behaviour. SIGAM functional outcome scores of F were recorded in three of four cases, with one patient performing at level B. On the reconstructive side, two of three patients reported a mean physical short form 12 (SF-12) score of 56.7 and a mental SF-12 score of 55.7. One patient reported a physical SF-12 score of 28.5 and a mental SF-12 score of 30.3. A reconstructive option provides a satisfactory functional outcome, comparable to the population mean, in the majority of patients in our cohort. A staged supratalar double osteotomy followed later by a hindfoot osteotomy is effective in centralising the ankle and creates a plantigrade weight-bearing platform for ambulation in patients with Type IV tibial hemimelia. Tang CH, Addar A, Fernandes JA. Amputation vs Reconstruction in Type IV Tibial Hemimelia: Functional Outcomes and Description of a Novel Surgical Technique. Strategies Trauma Limb Reconstr 2023;18(1):32-36.

Prosthetic Rehabilitation of Bilateral Tibial Hemimelia: A Case Report

Tibial hemimelia is a rare condition in which the child is born with a tibia having a wide range of clinical presentations ranging from hypoplastic tibia to complete deficiency of tibia. Bilateral tibial hemimelia is very rare and the deformities associated with it limit the mobility of individual. Prosthetic management can help achieve various goals of the individual but lack of awareness keeps the individualrsquos mobility limited. The purpose of the case study was to design a suitable prosthetic device which can help the subject to improve mobility and quality of life. After successful evaluation and fitment of extension prosthesis and knee pads assistive device the subject was trained in different phases to walk. The gait parameters were compared prior to and after the fitment of devices at three weeks and one year of final fitment. The quality of life was assessed at baseline and after one year of rehabilitation. Significant changes with knee pads assistive device and extension prosthesis were reported in the subjectrsquos gait parameters and quality of life.

A Case of Bilateral Tibial Hemimelia Type IV and V with Bilateral Subdural Hygroma and Atrial Septal Defect

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 and, of 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 bilateral tibial hemimelia type V (right) and IV (left).

Tibial hemimelia–polydactyly–five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS)

Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested. The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype.

A case of bilateral tibial hemimelia type VIIa

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, and of 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 bilateral tibial hemimelia type VIIa.

Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion

Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval.

Tibial Hemimelia and Femoral Bifurcation

Femoral bifurcation and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang complex and tibial agenesis-ectrodactyly syndrome. This article presents a case of Gollop-Wolfgang complex without hand ectrodactyly. Tibial agenesis-ectrodactyly syndrome and Gollop-Wolfgang complex are variants of tibial field defect, which includes distal femoral duplication, tibial aplasia, oligo-ectrodactylous toe defects, and preaxial polydactyly, occasionally associated with hand ectrodactyly.This article describes the case of a patient with bilateral tibial hemimelia and left femoral bifurcation. The proximal tibial anlage had not been identified in the patient's left leg. After failed fibular transfer procedure, the knee was disarticulated. The other leg was treated with tibiofibular synostosis and centralization of fibula to os calcis. At 7-year follow-up, the patient ambulates with an above-knee prosthesis and uses an orthopedic boot for ankle stability.In patients with a congenital absence of the tibia, accurate diagnosis is of the utmost importance in planning future treatment. In the absence of proximal tibial anlage, especially in patients with femoral bifurcation, the knee should be disarticulated. Tibiofibular synostosis is a good choice in the presence of a proximal tibial anlage and good quadriceps function.

Bilateral tibial hemimelia I

Congenital absence of tibia is a rare anomaly. We report a case of bilateral tibial hemimelia born to phenotypically normal parents. The two amputated legs with tibial dysplasia obtained from a 3-year-old boy were studied by radiography and anatomical dissection. The radiological evaluation revealed a normal hip joint. The lower end of femur was normal without any bifurcation, shortening or bowing. Fibula was present on both legs and there was no sign of bowing or doubling. Both right and left tibiae were absent. In addition, on the right side, five tarsal bones, two metatarsals and the corresponding digital rays were absent. On the left side, three tarsal bones were absent. Dissection of the amputated segments showed the presence of extensor digitorum longus, peroneus tertius, peroneus longus and brevis, gastrocnemius, and soleus. Following bilateral knee disarticulation the patient was fitted with prosthesis and is doing well.

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis

Ectrodactyly with aplasia of long bones syndrome is one of the most recognizable defects involving the extremities. We have studied a very large eight-generation consanguineous Arab family from the United Arab Emirates (UAE) with multiple severe limb anomalies resembling this condition (OMIM; 119100), for which the affected gene is unknown. The pedigree consists of 145 individuals including 23 affected (14 males/9 females) with limb anomalies. Of these, 18 had tibial aplasia (TA) usually on the right side. The expression of the phenotype was variable and ranged from bilateral to unilateral TA with ectrodactyly and other defects of the extremities. The mode of inheritance appears to be autosomal dominant with reduced penetrance. There were 10 consanguineous marriages observed in this pedigree. This could suggest possible pseudodominance due to high frequency of the mutant allele. Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24. In addition, bilateral tibial hemimelia and unilateral absence of the ulna was previously observed to co-segregate with deletion of 8q24.1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family.

Prenatal diagnosis of unilateral tibial hemimelia

We describe a case of unilateral tibial agenesis which was initially observed at 21 weeks' gestation. Unlike bilateral tibial hemimelia syndrome, a rare autosomal dominant condition, unilateral tibial agenesis, which accounts for about three-quarters of all newborns with this condition, has not previously been described. This case could have been a sporadic abnormality but, in view of the association with other observations (distal bifurcation of the femur, club foot), could be considered as an autosomal recessive inherited condition with variable penetrance. Ultrasonographic features and the genetic prognosis are discussed.