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Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

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Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

Auteurs : Jenny J. Van Den Ende [Brésil] ; Yolande Van Bever [Brésil] ; E. S. O. Rodini [Brésil] ; A. Richieri-Costa [Brésil]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1992-02-15.

RBID : ISTEX:5F71D195230055E5042B73A2678D137DF4C465B5

Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed “new” autosomal recessive syndrome.

Url:

https://api.istex.fr/document/5F71D195230055E5042B73A2678D137DF4C465B5/fulltext/pdf

DOI: 10.1002/ajmg.1320420411

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed “new” autosomal recessive syndrome.</div>
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Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri