Results 151 to 160 of about 1,854 (192)
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Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia
American Journal of Medical Genetics, 1996We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males).
N C, Nevin, H C, Mulholland, P S, Thomas
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Pathogenic mechanisms in osteochondrodysplasias.
The Journal of Bone & Joint Surgery, 1984We performed histochemical, immunohistochemical, electron-microscopic, and microchemical studies on cartilage growth plates from sixty-eight patients with nineteen different forms of human osteochondrodysplasia. Cartilage biopsies were obtained during orthopaedic procedures. Postmortem specimens were obtained within a short time after death.
V, Stanescu, R, Stanescu, P, Maroteaux
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Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cant� syndrome
American Journal of Medical Genetics, 1999Cantú syndrome (hypertrichosis, osteochondrodysplasia, cardiomegaly) is a rare condition, previously reported in 13 patients. We report on two additional patients with this disorder. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy.
S P, Robertson +5 more
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Cervical Abnormalities in Osteochondrodysplasia
1988Eighty-five children were treated for spinal deformities occurring in conjunction with osteochondrodysplasia; 11 patients revealed metabolic disorders (mucopolysaccharidosis) and were excluded from this series. Of the remaining 74 children with multiple types of osteochondrodystrophy, 13 had achondroplasia and 2 pseudo-achondroplasia (Table).
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Ultrastructural aspects of osteochondrodysplasias
1990The literature on osteochondrodysplasias is voluminous and a multitude of conflicting classifications has developed over the years. Eponyms proliferated and identical syndromes were described under multiple headings, whereas dissimilar disorders were treated as one. Even the newest methods of investigation frequently fail to reveal clear-cut boundaries
Ernesto Ippolito +3 more
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[Congenital osteochondrodysplasias. Personal cases].
La Radiologia medica, 1988The different forms of congenital osteochondrodysplasias are reviewed and personal cases (achondrogenesis; thanatophoric dwarfism; thanatophoric dwarfism associated with cloverleaf skull; asphyxiating thoracic dystrophy etc.) are presented.
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Prevalence of lethal osteochondrodysplasias
American Journal of Medical Genetics, 1990Cobben, J. M. +3 more
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