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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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The Genetic Basis of the Osteochondrodysplasias
Journal of Pediatric Orthopaedics, 2000The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission.
A C, Baitner +3 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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Prevalence of lethal osteochondrodysplasias in Denmark
American Journal of Medical Genetics, 1989AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of ...
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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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