Cases reported "Ectromelia"

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1/25. de lange syndrome. Clinical, dermatoglyphic and chromosomal findings in nine cases.

    Nine cases of the de lange syndrome are reviewed. Our findings show that the facial characteristics in the present series and in previously reported cases are remarkably similar. Dermatoglyphically, we have documented an increased incidence of tibial loops on the hallucal area and increased incidence of single flexion creases of the digits from this study series. Our study also supports the previous authors who have recorded an increased incidence in radial loops on the second and third digits and increased incidence of simian lines. We have not been able to document a consistent chromosomal defect.
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ranking = 1
keywords = tibia
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2/25. Unilateral tibial hemimelia with leg length inequality and varus foot: external fixator treatment.

    A 15-year-old girl with type II unilateral hemimelia presented with a 13.5-cm shortening of her right leg, absence of the distal half of the tibia, tibiofibular synostosis, and medial dislocation of a cavus and varus foot. She was treated by means of an external fixator. The shortening was significantly corrected, and realignment of the foot with the limb was achieved. An arthrodesis of the talus and lower end of the fibula was carried out operatively and stabilized with an external fixator. In the same surgical procedure, we performed an osteotomy of the tibiofibular synostosis, and progressive distraction was done with another external fixator. We emphasize the advantages of progressive distraction for the correction of congenital deformities of the limbs.
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ranking = 5
keywords = tibia
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3/25. Tibial hemimelia in langer-giedion syndrome-possible gene location for tibial hemimelia at 8q.

    We report on a girl with langer-giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia.
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ranking = 7
keywords = tibia
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4/25. Ilizarov lengthening in centralized fibula.

    Tibial hemimelia often produces major limb length problems (1,6,9,15) as well as foot deformity. The decision to perform reconstructive surgery depends on the expected leg-length discrepancy, the anomalies of the foot, and the status of the knee (4,6,8,15). Congenital bone deficiencies usually have a constant rate of growth inhibition (8), and leg lengthening is often associated with more complications (5,13). The complication rate is also increased with the increased leg-length discrepancy (5). In tibial hemimelia with functioning quadriceps (types I and II) and a functional foot, centralization of the fibula onto the talus and synostosis with the proximal tibia is an accepted reconstructive procedure (1,4,6,7,9,15). However, when the transplanted fibula produces a functional limb for the patient, the correction of leg-length inequality would be a challenge. This is a report of such a case.
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ranking = 2
keywords = tibia
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5/25. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.

    We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. He was diagnosed as having TPTPS. His daughter was more severely affected, having complete syndactyly of five-fingered hands in rosebud fashion (Haas-type syndactyly), hypoplastic tibiae, absent patellae, thick and displaced fibulae, preaxial polysyndactyly of triphalangeal toes, and cutaneous syndactyly of some toes, the manifestations being consistent with THPTTS. Having two different syndromes in the same family suggests that they are actually the same disorder. A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). In addition, all loci for TPTPS, THPTTS, and PPD2 (and/or PPD3) have been assigned to chromosome band 7q36. These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome." copyright 2000 Wiley-Liss, Inc.
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ranking = 7
keywords = tibia
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6/25. Tibial hemimelia of a different class.

    A variant of tibial hemimelia, previously undescribed in the literature and not classifiable by either of the established classification systems, is described. The features of this condition include a short, deformed tibia; proximal subluxation of the fibula at the knee; a normal knee joint and an ankle joint that may look abnormal but falls short of true diastasis of the joint. Treatment of two cases by differential lengthening of the tibia and fibula using the Ilizarov device is described. This form of tibial hemimelia should be recognised as a separate variant as preservation of the foot and ankle with expected excellent function should be possible, unlike the more severe forms of this condition.
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ranking = 4
keywords = tibia
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7/25. Sirenomelia in uneventful pregnancy.

    A rare case of sirenomelia at 38 weeks of gestation is reported. Fusion of the lower extremities and incomplete development of the bony pelvis was associated with agenesis of the urinary and genital systems, anorectal atresia and a single large umbilical artery. There was complete situs inversus of the single lower limb. This was composed of two partially fused femurs, a common tibia without fibula, and a rudimentary foot having three metatarsal bones and their corresponding toes. The present case was also interesting for its association with hypoplasia of the lungs. The pathogenesis of sirenomelia is discussed.
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ranking = 1
keywords = tibia
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8/25. A pair of sibs with tibial hemimelia born to phenotypically normal parents.

    Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes. Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Here we report a pair of sibs, 6- and 2-year-old Japanese boys, with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The elder brother was compatible with the Gollop-Wolfgang complex, and the younger brother with tibial agenesis-ectrodactyly syndrome. Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation.
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ranking = 9
keywords = tibia
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9/25. Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?

    In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.
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ranking = 6
keywords = tibia
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10/25. Limb deficiency and prosthetic management. 1. decision making in prosthetic prescription and management.

    This self-directed learning module highlights decision making in prosthetic management in pediatric and adult patients. This chapter reviews classification of congenital limb deficiency and management of congenital pediatric upper-extremity amputees. Differences in management of amputees of various ages from infancy to old age is discussed. Case examples are used to formulate prosthetic prescriptions for transradial limb deficiency as well as knee disarticulation and transtibial level amputations. Common prosthetic gait deviations and anticipated functional levels are evaluated. overall Article Objective: To discuss prosthetic prescription and management in congenital limb deficiency and acquired amputations for patients of various ages.
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ranking = 1
keywords = tibia
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