RESUMO
Since Jarcho and Levin described a condition involving extensive vertebral malformations and early death in 1938, many cases have been reported using multiple synonyms. Later, Solomon (3) proposed a subtype classification system to improve counseling concerning risk of recurrence, management, and prognosis. This is a report of a new Hispanic case with findings of spondylothoracic dysostosis and unusual aortic root dilatation
Assuntos
Humanos , Masculino , Recém-Nascido , Anormalidades Múltiplas , Aorta/anormalidades , Coluna Vertebral/anormalidades , Anormalidades Múltiplas , Coluna Vertebral , Costelas/anormalidades , Dilatação Patológica/congênito , SíndromeRESUMO
Since Jarcho and Levin described a condition involving extensive vertebral malformations and early death in 1938, many cases have been reported using multiple synonyms. Later, Solomon (3) proposed a subtype classification system to improve counseling concerning risk of recurrence, management, and prognosis. This is a report of a new Hispanic case with findings of spondylothoracic dysostosis and unusual aortic root dilatation.
Assuntos
Anormalidades Múltiplas , Aorta/anormalidades , Coluna Vertebral/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Dilatação Patológica/congênito , Humanos , Recém-Nascido , Masculino , Radiografia , Costelas/anormalidades , Coluna Vertebral/diagnóstico por imagem , SíndromeRESUMO
This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype. The importance of ultrasonography in the prenatal diagnosis of this malformation is presented.
