RESUMO
The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation.
Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Transtornos do Crescimento/genética , Deficiência Intelectual/genética , Pré-Escolar , Genes Dominantes , Humanos , Masculino , Mutação , Atrofia Óptica/genética , SíndromeRESUMO
Deletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are "de novo" deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases (including one reported here) allows to conclude that there is no consistent association to delineate a typical clinical syndrome.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 3 , Anormalidades Múltiplas/diagnóstico , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Rearranjo Gênico/genética , Humanos , Lactente , Masculino , Idade Paterna , Fenótipo , SíndromeRESUMO
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.