RESUMO
Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.
Assuntos
Estatura , Contratura/genética , Genitália Masculina/anormalidades , Mãos , Deficiência Intelectual/genética , Adolescente , Adulto , Humanos , Masculino , Osteoporose/genética , SíndromeRESUMO
A boy with fibrodysplasia ossificans progressiva received nearly twice the usual therapeutic dose of disodium etidronate for 13 months in an attempt to prevent reossification following a second operation to correct severe torticollis. The operation was successful, but during therapy he developed weakness and distinctive bone lesions characterized by general osteopenia, widened physes, and unique radiolucent bands in the metaphyses. The osseous abnormalities were distinct from those of rickets and healed after withdrawal of the drug.
Assuntos
Ácido Etidrônico/uso terapêutico , Miosite Ossificante/tratamento farmacológico , Pré-Escolar , Ácido Etidrônico/administração & dosagem , Ácido Etidrônico/efeitos adversos , Humanos , Lactente , Masculino , Miosite Ossificante/prevenção & controle , Torcicolo/cirurgiaRESUMO
Three patients with postaxial polydactyly and other abnormalities of the hands and feet, hypoplasia and fusion of the vertebral bodies, and dental abnormalities are reported. Two were sisters born to normal unrelated parents; the other patient was the male offspring of a consanguineous marriage. We suggest that this constellation of abnormalities represents a recessively inherited syndrome.
Assuntos
Deformidades Congênitas do Pé , Deformidades Congênitas da Mão , Coluna Vertebral/anormalidades , Anormalidades Dentárias/complicações , Anormalidades Múltiplas/genética , Adulto , Doenças Mamárias/complicações , Consanguinidade , Cistos/complicações , Feminino , Genes Recessivos , Cardiopatias Congênitas/complicações , Humanos , Lactente , Masculino , Sindactilia/complicações , SíndromeRESUMO
Macrodactyly and hemihypertrophy have been described in association with a number of syndromes which are reviewed. We describe a child who, in addition to macrodactyly and hemihypertrophy, has extensive connective tissue nevi. He does not conform to any known entity and would appear to represent a "new" syndrome.