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An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly.

ABSTRACT: Ulnar hemimelia, also referred to as post-axial longitudinal deficiency of the upper limb, is a very rare skeletal anomaly characterized by the partial or complete absence of the ulna. The majority of the reported cases are sporadic and more common in males. The disorder is mostly unilateral, right-sided and incomplete. A slight shortening of the forearm, radial bowing and ulnar-sided hand drift are the anomalies which often accompany ulnar hemimelia. Ulnar hemimelia may also be seen in association with complex wrist and hand anomalies. The absence of post-axial metacarpal and digital bones are frequent findings in patients with this rare disorder. Cases with additional digital abnormalities such as post-axial syndactyly and camptodactyly are also present in the literature. However, a case of ulnar hemimelia in association with mesoaxial synostotic syndactyly has never been reported to date.

SUBMITTER: Ozdemir M

PROVIDER: S-EPMC7068096 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly.

Özdemir Meltem M Kavak Rasime Pelin RP Kavak Rasime Pelin RP Kaplanoğlu Hatice H

BJR case reports 20200212 1

Ulnar hemimelia, also referred to as post-axial longitudinal deficiency of the upper limb, is a very rare skeletal anomaly characterized by the partial or complete absence of the ulna. The majority of the reported cases are sporadic and more common in males. The disorder is mostly unilateral, right-sided and incomplete. A slight shortening of the forearm, radial bowing and ulnar-sided hand drift are the anomalies which often accompany ulnar hemimelia. Ulnar hemimelia may also be seen in associat ...[more]

PMID: 32201614

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Project description:PurposeFibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia.MethodsIn total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed. Patients were divided into terminal hemimelia and classic fibular hemimelia groups, and their demographic characteristics and clinical and radiographic findings were compared.ResultsFemoral shortening, knee valgus, and tibial spine hypoplasia were less common in terminal hemimelia (n = 13) than in classic fibular hemimelia (n = 17) (p = 0.03, p < 0.001, and p = 0.003, respectively). None of the patients in the terminal hemimelia group exhibited knee instability, whereas 12% of patients with classic fibular hemimelia did. Ball-and-socket ankle and absence of lateral rays were commonly observed in both groups. However, tarsal coalition was observed less frequently in terminal hemimelia (p = 0.004). All terminal hemimelia patients exhibited a painless plantigrade foot without ankle instability. Despite limb-length discrepancy at maturity averaging 40.4 mm for terminal hemimelia and 67.0 mm for classic fibular hemimelia (p < 0.001), patients with terminal hemimelia, except for one, exhibited > 20 mm of limb-length discrepancy. However, 46% of them underwent limb-length equalization procedures, mostly single-stage tibial lengthening, at a mean age of 11.2 years.ConclusionTerminal hemimelia may present with a milder phenotype than classic fibular hemimelia. It mainly overlaps with the symptoms of fibular hemimelia below the ankle joint and manifests as limb-length discrepancy. However, a considerable number of patients with terminal hemimelia required limb-length equalization procedures, for example single-stage tibial lengthening.Level of evidencelevel IV.

Project description:BackgroundFibular hemimelia is a congenital disorder that is characterized by the absence of the fibula that could be either partial or complete. Successful management aims to restore normal weight bearing and normal limb length. The introduction of the Ilizarov method of limb lengthening has provided an attractive alternative to amputation. During lengthening, the tight posterolateral soft-tissue structures, the thick fibrous fibular band, and the shortened Achilles tendon become tighter and transfer a valgus force to the talus and calcaneus, further aggravating the deformity.Questions/purposesWe have developed a strategy to address this in patients with Paley type III fibular hemimelia via ankle reconstruction that provides posterolateral stability and buttressing of the ankle and hind foot by reconstructing the lateral buttress. This is achieved through excision of the fibrous fibular anlage, centralization of the ankle, restoring talocalcaneal coronal alignment, and reconstruction of the lateral malleolus by transplanting the cartilaginous remnant of the lateral malleolus or by crafting a bone block autograft taken from the iliac crest or tibia.MethodsA prospective non-randomized clinical trial included ten ankles in eight patients with fibular hemimelia Paley type III (two patients had bilateral deformity). The patients' ages ranged from 7 to 36 months.ResultsAfter a follow-up ranging from 48 to 96 months, a stable plantigrade foot was achieved in nine ankles; one ankle had residual equinus, five ankles had residual valgus heel, and eight ankles had complete range of motion of the ankle, whereas one patient lost 5° of dorsiflexion. One ankle had equinus deformity.ConclusionsTo achieve satisfactory results, a stable plantigrade foot and ankle is necessary in patients with fibular hemimelia before attempting to equalize limb length discrepancy. It is important to reconstruct the ankle through an extra-articular soft tissue release, anlage resection, osteotomies, and restoring the abnormal talocalcaneal relationship before any attempt to equalize LLD.

Project description:BackgroundFibular hemimelia has been reported as the most common congenital longitudinal deficiency of the long bones. Previous studies have focused on the best treatment options for this congenital condition. There is very little to our knowledge in the literature focused on residual persisting malformations and leg length discrepancy after treatment.MethodsSeven patients presenting fibular hemimelia in eight fibulae received treatment between years 1988 and 2001. Pre-treatment average leg length discrepancy was 5.3 cm. All patients presented associated congenital deformities of the ipsilateral leg. Six patients received surgical treatment. Average post-treatment follow up was 9.7 years. Residual malformations and leg length discrepancy were recorded for all patients. It is a retrospective case series study at one institution by two of the presenting authors as senior surgeons.ResultsAverage leg length gained after successful bone lengthening in six patients was 5.06 cm. Although there was a significant functional improvement, a number of residual malformations and leg length inequality was recorded. Residual average leg length discrepancy of 3.1 cm was observed in five patients who completed surgical treatment. Five patients presented a limp. Residual anterior-medial bowing of the tibia was observed in four patients. Calf atrophy was present in all seven patients. Valgus deformity of the ankle was remained in two patients.ConclusionsTreatment of fibular hemimelia, even in cases graded as successful, showed to be accompanied by a number of persisting residual deformities and recurrent leg length inequality. Although the number of patients is limited, the high rate of this phenomenon is indicative of the significance of the report. The family and the patients themselves should have the right expectations and will be more co-operative when well informed about this instance. A report of common post-treatment residual deformities should be valuable in best possible treatment planning of fibular hemimelia.

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An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly.

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An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly.

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