Cases reported "Bone Diseases, Metabolic"

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21/30. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.

    We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this is probably a genetically determined condition with an autosomal recessive type of transmission. The findings in the siblings are compared with those of a woman with the same condition, previously reported as an example of craniometaphyseal dysplasia. The combination of findings in these patients seems diagnostic: characteristic skull changes including multiple wormian bones; wide long tubular bones without normal metaphyseal flaring; wide short tubular bones without normal diaphyseal constriction and sometimes actual diaphyseal expansion; and wide ribs and clavicles.
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ranking = 1
keywords = dysplasia
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22/30. Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin d treatment. Report of two cases.

    Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets. Low levels of 1,25-(OH)2-D3 were found in one child and he was treated with vitamin d; resolution of the rachitic changes was more rapid than in the untreated child. It is suggested that in mucolipidosis 2 bone reacts to two independent factors, one controlling calcium metabolism, the other depending on the primary lysosomal enzyme defect. Since ricket-like features are not present in the other mucolipidoses or mucopolysaccharidoses, the defect of calcium metabolism seems to be related to the specific enzyme defect of mucolipidosis 2.
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ranking = 0.0027550417132863
keywords = defect
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23/30. Unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization.

    A case of unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization is reported. Unlike the anodontia, the unilateral linear basal cell nevus and osteoma cutis began to appear in adulthood. A hamartomatous process is suggested to explain these conditions. This complex syndrome has not been reported in the literature.
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ranking = 0.015066185184418
keywords = cutis
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24/30. The use of freeze-dried rib and hydroxylapatite in the treatment of a fracture occurring in a patient with familial facial osteodystrophy.

    The treatment of repeated pathologic fractures of the mandible has long taxed the ingenuity of surgeons. The complexity of the problem increases with the recognition of a metabolic defect that renders the facial bones hypoplastic. In the case presented, a tentative diagnosis of familial facial osteodystrophy was made at the National Institutes of health. Since that time, the patient has undergone autogenous onlay grafting, which has completely resorbed. Because of continuous resorption, a number of pathologic fractures have occurred. The most recent fracture was treated by means of a freeze-dried rib, which acted as a floor and as a splint to the fracture site. Hydroxylapatite and a marrow mixture were placed on the floor to gain height, strength, and durability. Subsequently, hydroxylapatite augmentation was performed to gain a more anatomic alveolar ridge. The patient's 12-month follow-up has shown the mandible to be intact with no noticeable change in either vertical or horizontal dimensions.
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ranking = 0.0009183472377621
keywords = defect
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25/30. Dutch variant of Bellini metaphyseal dysplasia: report of two siblings.

    Two sibling girls with cone-shaped knee epiphyses and metaphyses are described. Bone dysplasia with this rare, distinctive, radiographic finding, was first reported by Bellini and Bardare with only few cases reported thereafter. Velores et al. divided bone dysplasias with cone-shaped epiphyses and metaphyses of the knee in two entities which they named trichoscyphodysplasia and metaphyseal acroscyphodysplasia. Although the authors agree that there is more than one bone dysplasia that presents with these distinctive radiographic knee appearances, they consider that two few cases have been reported to satisfactorily classify this group of disorders.
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ranking = 1.2857142857143
keywords = dysplasia
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26/30. hypophosphatasia in a newborn infant.

    Infantile type hypophosphatasia, an autosomal recessive disease with severe clinical manifestations, is characterized biochemically by subnormal activities of circulating alkaline phosphatase. In this report, we presented a five-day-old male with this rare disorder. His parents were first cousins, and he was first seen for jaundice. He had soft calvaria, large fontanel, extremely wide cranial sutures, low-set ears, a depressed nasal bridge, funnel chest, and short and bowed distal limbs. Roentgenographic studies showed widened sutures and poor ossification of the skull, bowing of the femora and slight modeling defects in the long bones. A low serum alkaline phosphatase activity led us to measure excretion of phosphoethanolamine and found it to be increased.
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ranking = 0.0009183472377621
keywords = defect
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27/30. Osteopenia as a feature of the androgen insensitivity syndrome.

    OBJECTIVE: The syndrome of androgen insensitivity, a paradigm of a hormone resistance syndrome, manifests as failure of masculinization despite normal or high concentrations of serum testosterone. The defect in these 46 XY patients resides in the androgen receptor gene, with consequent defective androgen action and abnormal sexual differentiation. We sought to evaluate whether the adverse sequelae of androgen resistance may extend to skeletal tissue by measuring bone mineral density in six patients with androgen insensitivity. DESIGN: A cross-sectional retrospective study. MEASUREMENTS: Bone mineral density was measured by means of a Dexa (Hologic QDR 1000 scanner). The diagnosis of androgen insensitivity was confirmed in each patient by karyotype and assay of sex hormones. RESULTS: The five adult patients with androgen insensitivity had been exposed to both defective androgen action and variable periods of oestrogen deficiency. The latter resulted from the low circulating oestrogen concentrations (for premenopausal females) before gonadectomy and inadequate oestrogen replacement after gonadectomy. All five adults with androgen insensitivity had osteopenia in both the lumbar spine (T-score -1.52 to -3.85) and femoral neck (T-score -1.34 to -4.91). CONCLUSIONS: Osteopenia in patients with androgen insensitivity may relate to defective androgen action, oestrogen deficiency or a combination of the two. These observations have implications for the management of patients with androgen insensitivity and may provide insight into the effects of androgens on the female as well as the male skeleton.
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ranking = 0.0036733889510484
keywords = defect
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28/30. Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.

    We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and in the proximal end of the right femur. skin biopsy showed subcutaneous and adipose tissue containing membranocystic structures. Cerebral MR and CT scans showed fronto-temporal atrophy, altered signal of the white matter and mineralization of the caudate and dentate nuclei. These findings strongly recall polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, but in the present case, bone alterations were not prominent; moreover, palatal myoclonus has never previously been described in this syndrome.
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ranking = 0.14285714285714
keywords = dysplasia
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29/30. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

    We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a "monkey wrench" appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and his short stature, which became apparent postnatally, was much milder than that of the previously reported cases (approximately -5 SD of average), and the joint laxity was more subtle. In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis. CONCLUSION: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.
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ranking = 1.5714285714286
keywords = dysplasia
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30/30. Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.

    We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have femoral anteversion and tibial torsion giving rise to severe genu valgum deformity and intoeing. She has no facial anomalies and is developmentally normal. family history is unremarkable and chromosomal analysis was normal. Investigation of mineral metabolism showed idiopathic hypercalciuria. Surgical lengthening of her severely hypoplastic left radius at age 19 months was successful. Bilateral femoral and tibial osteotomies at age 5-4/12 years corrected her lower limb deformities. This combination of two distinctive but rare skeletal abnormalities may represent a new syndrome.
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ranking = 0.71428571428571
keywords = dysplasia
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