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Smith-Fineman-Myers syndrome in apparently monozygotic twins.

作者信息

Guion-Almeida M L, Tabith A, Kokitsu-Nakata N M, Zechi R M

机构信息

Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brasil.

出版信息

Am J Med Genet. 1998 Sep 23;79(3):205-8. doi: 10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l.

DOI:10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l
PMID:9788563
Abstract

We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. These manifestations resemble those previously described in the Smith-Fineman-Myers syndrome.

摘要

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