Cases reported "Chondrodysplasia Punctata"

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1/6. Multiple epiphyseal dysplasia. A family case report.

    Six cases of multiple epiphyseal dysplasia were found in a 30-member kindred. The kindred showed an increased incidence of other joint abnormalities. A dominant pattern of inheritance was not confirmed.
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2/6. The Upper Paleolithic triple burial of Dolni Vestonice: pathology and funerary behavior.

    This work focuses on paleopathological analysis of one of the skeletons from the Gravettian triple burial of Dolni Vestonice (Moravia) and addresses issues of Upper Paleolithic funerary behavior. The burial includes the well-preserved skeletons of three young individuals. The skeleton in the middle (DV 15) is pathological and very problematic to sex; the other two (DV 13 and DV 14) are males and lie in an unusual position. The young age, the possibility of a simultaneous interment, and the position of the three specimens have given rise to speculations about the symbolic significance of this spectacular and intriguing funerary pattern. The pathological condition of the skeleton in the middle further emphasizes its peculiarity. Main pathological changes of the DV 15 skeleton include: asymmetric shortening of the right femur and of left forearm bones, bowing of the right femur, right humerus, and left radius, elongation of fibulae, dysplasias of the vertebral column, and very marked enamel hypoplasias. Scrutiny of the medical literature suggests that the most likely etiology is chondrodysplasia calcificans punctata (CCP) complicated by trauma and early fractures of the upper limbs. CCP is a rare inherited disorder characterized by stippled ossification of the epiphyses. The cartilaginous stippling is a transient phenomenon that disappears during infancy, leaving permanent deformities on affected bones. Among the different forms of CCP, the X-linked dominant form is that resulting in asymmetric shortening and is lethal during early infancy in males. Thus, survival of DV 15 until young adult age would require the specimen to be a female. Clinical findings often associated with the disease (erythemas, ichthyosis, alopecia, cataracts, and joint contractures, among others) would emphasize the singular aspect of this individual, pointing to a condition that should be carefully taken into account when speculating on the significance of that peculiar burial.
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3/6. Therapeutic problems in familial poly-epiphyseal dyschondroplasia.

    The writers describe the clinical features of familial poly-epiphyseal dysplasia without spinal involvement affecting two sisters who both underwent surgical treatment with a view to restoring balance in load bearing joints. The satisfactory results are illustrated and "biological" osteotomy is advised in such cases, even if painful symptoms have not yet appeared.
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4/6. Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida.

    Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.
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5/6. Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.

    chondrodysplasia punctata, a skeletal dysplasia with craniofacial dysmorphism and joint contractures can occur with rhizomelia, mesomelia or both. The rhizomelic form is generally lethal, whereas one form of mesomelic chondrodysplasia punctata has been described that is associated with a presumably normal lifespan and intelligence. We describe a case of a fetus suspected prenatally of having rhizomelic chondrodysplasia punctata, who was subsequently diagnosed at 1.5 years of age to have the tibia-metacarpal form of chondrodysplasia punctata. The prenatal sonographic findings of second-trimester micromelic bone shortening and third-trimester proximal femoral stippling may be present in the rhizomelic form but are not specific to this condition.
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6/6. Perthes' disease and multiple epiphyseal dysplasia.

    Five atypical cases were observed amongst ninety children with Perthes' disease, ten of whom had bilateral hip joint involvement. All five were boys, four being under 4 years of age. Four had bilateral hip joint disease, four presented with hip pain, three showing some degree of retardation of bone growth. In one case the hip disorder was familial, and in four there were bony abnormalities elsewhere. Despite the absence of the classic signs of multiple epiphyseal dysplasia, a mild form of this condition is a possible alternative diagnosis for these children. Racial and familial differences are known in the prevalence of Perthes' disease which itself may represent a dysplasia. The pathogenesis of Perthes' disease is still uncertain, although some abnormality of the blood supply to the proximal femoral epiphysis is postulated. That such a vascular defect may be engrafted on to multiple epiphyseal dysplasia is possible, with subsequent joint degeneration which may come to resemble Perthes' disease either clinically or radiologically. A plea is made for the closer study of young children presenting with what may seem to be atypical Perthes' disease.
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