PMC5730416_01
Atypical facial features and finger-like projections on both heels (white arrows).
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Her abnormal lower limbs, with extreme shortness and thickness of the lower legs, and bilateral hand anomalies were recognized at birth, in addition to her atypical facial features, including low-set ears, short palpebral fissures, down-turned corners of the mouth, a long face, and retrognathia (Fig. 1).
Bilateral hand deformities including symmetrical oligosyndactyly, fusiform-shaped fingers, abnormal palmar-phalangeal creases, and cone-shaped fingernails.
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The upper limb deformities included bilateral symmetrical oligosyndactyly, fusiform-shaped fingers, abnormal palmar-phalangeal creases, and cone-shaped fingernails on both hands, as well as a common triangular-shaped middle phalanx of the 3rd and 4th fingers on her right hand (Fig. 2).
Bilateral remarkable skeletal deformities consisting of short and thick legs with cutaneous skin dimples above the proximal tibiae.
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In the examination of the lower limbs, both striking and debilitating deformities drew our attention, which consisted of extreme shortness and thickness in both lower legs and cutaneous skin dimples above the anterior and lateral sides of the proximal tibia (Fig. 3).
Finger-like projections on both heels.
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Interestingly, there were four finger-like projections on the right heel and five on the left heel, which had no connections to the metatarsal bones (Fig. 4).
Preoperative radiographs of lower limbs on admission to the hospital, showing bilateral rhomboid-shaped fibula accompanied by a rhomboid-shaped tibia.
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Among the various radiographic findings of this syndrome, the most impressive was the bilateral rhomboid-shaped fibula, which was accompanied by a rhomboid-shaped tibia (Fig. 5).
Radiographs of the hands and feet.
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Moreover, the radiographs of the feet displayed rhomboid-shaped, deformed talus and calcaneus bones in addition to a tarsal synostosis on both sides (Fig. 6).
CT angiography depicting a poor vascular supply at the level of the lower legs.
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Furthermore, a computed tomography (CT) angiography showed that the popliteal artery was divided into two branches above each knee (at the metaphysodiaphyseal portions of the distal femora), and that there were no fibular arteries leading to a poor vascular supply at the level of the lower legs (Fig. 7).
At 6 years of age, early postoperative radiographs of the patient display bilateral tibial lengthening and deformity correction with a monofocal tibiofibular osteotomy using a circular external fixator.
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Subsequently, bilateral tibial lengthening and deformity correction with a monofocal tibiofibular osteotomy using a circular external fixator was performed, in addition to a bilateral gradual closed correction of the equinus contracture (Fig. 8).
The control radiographs after removing external fixators showing a total of 5 cm of lengthening and an acceptable deformity correction in both lower legs in addition to the equinus contractures to approximately 30  on each side.
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After achieving complete fusion, the external fixators were removed 6 months after the operation (Fig. 9).
Clinical photographs of the patients at the final follow-up visit.
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At 10 years of age, this patient was able to walk independently with a significant improvement in her ambulatory status (Fig. 10).