Split Hand/Foot Malformation with Long Bone Deficiency: A Report of Two Female Siblings

Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently tibia. This case report described two sisters with congenital limb defects born to healthy consanguineous parents. The six-year-old girl did not had both radii and the left fibula. There was a cleft in the left hand and the right foot. She had one digit in her right upper limb, but did not have the left foot. The four-year-old girl had short four limbs, bilateral tibial aplasia with single digit in all limbs. Both parents were normal, and no other similar cases was reported in the family. According to the authors' best knowledge, these two cases are the first published cases in Yemen with the SHFMLD, but they need a genetic study to determine their genetic profile.

Femoro-pedal distraction in staged reconstructive treatment of tibial aplasia

Aims The treatment of tibial aplasia is controversial. Amputation represents the gold standard with good functional results, but is frequently refused by the families. In these patients, treatment with reconstructive limb salvage can be considered. Due to the complexity of the deformity, this remains challenging and should be staged. The present study evaluated the role of femoro-pedal distraction using a circular external fixator in reconstructive treatment of tibial aplasia. The purpose of femoro-pedal distraction is to realign the limb and achieve soft tissue lengthening to allow subsequent reconstructive surgery. Methods This was a retrospective study involving ten patients (12 limbs) with tibial aplasia, who underwent staged reconstruction. During the first operation a circular hexapod external fixator was applied and femoro-pedal distraction was undertaken over several months. Subsequent surgery included reconstruction of the knee joint and alignment of the foot. Results The mean follow-up was 7.1 years (2 to 10). The mean age of the patients at the time of the application of the fixator was 2.3 years (1.1 to 5.0). The mean time under distraction was 139.7 days (81.0 to 177.0). A mean fibular distalization of 38.7 mm (14.0 to 67.0) was achieved. Pin infections occurred in four limbs (33.3%) and osteitis in one. A femoral fracture occurred in one patient. Premature removal of the frame was not required in any patient. Sufficient realignment of the leg as well as soft tissue lengthening was achieved in all patients, allowing subsequent reconstruction. All patients were able to mobilize fully weight bearing after reconstruction. Functional outcome was limited in all limbs, and five patients (50.0%) required additional reconstructive operations. Conclusion Regarding the functional results in the treatment of tibial aplasia, amputation remains superior to limb salvage. The latter procedure should only be performed in patients whose parents refuse amputation. Femoro-pedal distraction efficiently prepares the limb by realigning the leg and soft tissue lengthening. Minor complications are frequent, but usually do not hinder the continuation of distraction. Even though a fully weight-bearing limb is achieved, the functional outcome of reconstructive treatment remains limited. Recurrent deformities frequently occur and may require further operations. Cite this article: Bone Joint J 2020;102-B(9):1248–1255.

A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?

Tibial aplasia is an uncommon lower limb malformation that can occur isolated or be part of a more complex malformation pattern. We describe a 9-year-old boy born after uneventful pregnancy and delivery. Family history was negative for maternal diabetes and other malformations. The patient presented with left tibial aplasia and homolateral prexial foot polydactyly. He also displayed enamel dysplasia and bifid scotum with cryptorchidism. Literature review failed to identify a significant syndromic association between lower limb defects of the tibial type and the genital anomalies reported here. The combination of tibial aplasia with midline genital malformations further supports the hypothesis that the tibial ray development mirrors the morphogenetic process of the radial structures. Accordingly, the malformation pattern observed in the present patient may be pathogenetically explained by an insult occurring during late blastogenesis.