Smith-Fineman-Myers syndrome in apparently monozygotic twins.

Autor: Guion-Almeida ML; Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brasil., Tabith A Jr, Kokitsu-Nakata NM, Zechi RM
Jazyk: angličtina
Zdroj: American journal of medical genetics [Am J Med Genet] 1998 Sep 23; Vol. 79 (3), pp. 205-8.
DOI: 10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l
Abstrakt: 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.
Databáze: MEDLINE