Fibrodysplasia ossificans progressiva in children (review and clinical analysis of 5 case reports)

Ossificans progressive fibrodysplasia (OPF) presents a rare genetically caused osteopenia manifested by calcification and ossification of muscles, tendons, ligaments, fascia, and subcutaneous tissues due to aggressive fibroblasts proliferation. The disease is usually associated with congenital skeletal abnormalities: clinodactyly of the first toe, ankylosis of the first interphalangeal joints, and flexion contracture of the first finger. Surgical attempts of ossifications excision are unsuccessful and worsen the situation. 5 patients with OPF are presented. A course of the disease, clinical pattern, and surgery outcomes are disclosed. Both orthopedic manifestations such as congenital hand and foot abnormalities being a key to early clinical evaluation and secondary changes are described in detail. Also, postoperative complications are presented. Surgeonsare recommended to be on guard against this disease when planning the operations for heterotopic ossifications as well as for relating hand and foot abnormalities

TREATMENT OF BRACHIMETATARSIA IN CHILDREN

Brachimetatarsia is a malformation of one or more of the metatarsal bones, characterized by its shortening. Abnormal anatomy of the forefoot leads to the convergence of epiphyses of adjacent metatarsals, deformation of the forefeet, including the formation of hallux valgus, pain and cosmetic defects. The authors have conducted the surgical treatment (lengthening the shortened metatarsal bones) in 18 female patients (28 feet, 32 metatarsal bones) and determined the optimal method of surgical correction. Depending on the severity of metatarsal bone shortening 3 methods of surgical treatment were applied: in shortening of less than 1,2 cm -the slide osteotomy; in shortening up to 1.8 cm - a one-staged lengthening of metatarsal bone with autograft; more than 1.8 cm - the distraction osteosynthesis. Due to existing disorders it is advisable to perform restoration of the shortened toe length according to the type of the metatarsal parabola, inherent to the patient. The optimal method of surgical treatment is a one-staged lengthening of the shortened metatarsal bone with the use of autograft from the iliac wing borrowed by means of “window-form” method without damage to the integrity of the apophysis

Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions