Cases reported "Ectromelia"

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11/25. Cavovarus foot deformity with multiple tarsal coalitions: functional and three-dimensional preoperative assessment.

    In rare instances, tarsal coalition leads to cavovarus foot deformity, although the pathologic mechanism leading to this deformity is not clear. This article reports a case of a 14-year-old boy presenting a severe cavovarus deformity of the right foot with talocalcaneal and calcaneonavicular coalitions, and a mild cavus deformity of the left foot with a single talocalcaneal coalition. Computed tomography and postoperative histologic analysis demonstrated a synostosis between talus and calcaneus and a fibrous calcaneonavicular coalition with partial ossification. Instrumented gait analysis revealed a limited range of ankle plantar flexion and increased external rotation of the ankle. Associated skeletal malformations including incomplete hemimelia of the forearm and scoliosis raised the possibility of a teratologic condition, but neurologic examination, spinal magnetic resonance imaging, and nerve conduction velocities were normal. The progressive ossification of combined coalitions during growth of the foot may have been one factor leading to this complex foot deformity. The fine-wire electromyogram showed normal tibialis anterior and posterior muscle activity. Small soft tissue tears in the sinus tarsi may have led to a mild reflexive increase of the muscle tone and tendon shortening, which pulled the forefoot into adduction and the heel into varus, and raised the medial arch. Mechanical alterations of the ankle appear secondary to the heel varus and to the progressive deformity of the talus. Three-dimensional computed tomography reconstruction and gait analysis appeared to be helpful additional parameters to understanding the pathomechanics of this complex foot deformity and for preoperative planning of triple arthrodesis.
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12/25. Multidisciplinary surgical approach to a surviving infant with sirenomelia.

    Sirenomelia is an extremely complex and rare malformation with different degrees of lower-extremities fusion associated with gastrointestinal, musculoskeletal, vascular, cardiopulmonary, and central nervous system malformations. In the English literature, there are only 5 reports of infants surviving with this condition. In our case, a 2540-g female infant was born with normal vital signs, no facial dysmorphism, and a complete soft tissue fusion of the lower limbs, from perineum to ankles. Radiologic examinations revealed an intestinal atresia and a single pelvic kidney, with a unique ureter, 2 femurs, 2 tibias, 2 fibulas, and 2 feet (simpus dipus). At 7 months of age, a multidisciplinary surgical team achieved complete separation of the lower limbs, with independent vascular and nerve supplies. At the time of this writing, the infant was 28 months old and had a regular growth curve. Many future reconstructive surgeries have been planned to achieve an acceptable quality of life for this infant.
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13/25. Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?

    We report on two infants born at term with amelia/phocomelia and a striking appearance with facial hemangiomas and micrognathia. The upper limbs were absent and the lower limbs were extremely short, containing only a tibia; the phocomelic feet lacked one to four lateral rays. There was no known teratogen exposure and the infants were born in different regions of the USA. This may be considered an unusually symmetrical and rare form of FFU dysostosis, or a separate entity.
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14/25. Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

    We report on an infant with the syndrome of thrombocytopenia with Absent Radii (TAR) with severe lower-limb involvement. Amegakaryocytic thrombocytopenia was detected at 6 days when the platelet count was 11,000/microL. The platelet count increased steadily to 100,000/microL at 3 years. The patient required bilateral above-knee amputations for femorotibial synostoses. We recommend postponement of all elective operations until platelet counts are normal.
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15/25. The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.

    We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.
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16/25. Orofaciodigital syndrome with mesomelic limb shortening.

    Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.
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17/25. Familial occurrence of bifid femur and monodactylous ectrodactyly.

    Two brothers each had one normal upper limb; one had tridactylous ectrodactyly of one hand with normal forearm bones; the other had monodactyly of one hand with absent ipsilateral ulna. Both had monodactyly of the feet, absence of the tibiae, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected. Since her parents and the father and paternal grandfather of the affected boys were normal, the pattern of inheritance of the trait in this family is presently unclear.
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keywords = tibia
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18/25. Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound.

    The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16.5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.
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19/25. Tibial hemimelia and tetralogy of fallot associated with first trimester exposure to amantadine.

    Although amantadine hydrochloride has been extensively used for the prevention of influenza A2, few data exist regarding its safety in pregnancy. We report the outcome of a pregnancy during which the mother was treated with amantadine in the first trimester. The infant, born at 29 weeks gestation, has tetralogy of fallot and tibial hemimelia. Follow-up of the four prospective cases known to date to the Motherisk Program in Toronto did not identify any abnormalities.
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20/25. Hemimelia in Brachmann-de lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.

    We report on a male infant with Brachmann-de lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.
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