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Revista chilena de pediatría

versão impressa ISSN 0370-4106

Resumo

MELLADO S, Cecilia et al. Hydrocephalus síndrome. Rev. chil. pediatr. [online]. 1998, vol.69, n.2, pp.77-81. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41061998000200007.

Three patients with hydrolethalus syndrome, the first reported in our' country, two of them in siblings, are described. The syndrome was first described in Finland. Only a few cases of other ethnic origin have been reported. This lethal disorder is characterized by polyhydramnios, hydrocephclus, polyoactyly, and cleft lip and palate as the principal symptoms. Diagnosis is clinical. Differential diagnosis includes other midline malformation syndromes such as Paliister Hall, oral faciof digital (IV and VI), Smith Lemli Opitz, Meckel, trisomy 13, and pseudotrisomy 13. Because of the autosoma; recessive inheritance pattern of this syndrome its proper recognition is very important for appropriate genetic counselling.

Palavras-chave : abnormotilies; multiple; hydrolethalus syndrome; orofaciodigital.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )

 

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