Subject(s)
Dwarfism/diagnostic imaging , Child, Preschool , Humans , Male , Mexico , Radiography , SyndromeABSTRACT
Se estudio a un nino de cuatro anos de edad cuyas manifestaciones fenotipicas permitieron llegar al diagnostico de enanismo Mulibrey. Los padres del paciente no eran consaguineos, no tenian ascendencia europea, ni antecedentes de familiares similarmente afectados. La presente observacion concuerda con la herencia autosomica recesiva postulada para esta entidad, corrobora la amplia distribucion geografica de la misma y sugiere que la mutacion tiene un origen multiple
Subject(s)
Child, Preschool , Humans , Male , DwarfismABSTRACT
Five sporadic cases of cleidocranial dysostosis are described. Besides the classical findings, the clinical and roentgenological evaluation showed bilateral macrodactily of the second toe, aplasia of the 12th rib and severe acetabular dysplasia. This features had not been previously reported in medical literature. The importance of an early diagnosis is stressed for adequate orthopedic and odontologic management, as well as for opportune genetic counseling.
Subject(s)
Cleidocranial Dysplasia/diagnostic imaging , Skeleton/diagnostic imaging , Adolescent , Child , Cleidocranial Dysplasia/diagnosis , Female , Genetic Counseling , Humans , Male , RadiographyABSTRACT
Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant "de novo" mutation as the cause of the entity is supported by the finding of increased paternal age.
