Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.

doi:10.1002/ajmg.1320470523

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Article

Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.

American journal of medical genetics - 1 Oct 1993

Richieri-Costa A, Guion-Almeida M L

Abstract excerpt

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pat...

Topics

Abnormalities, Multiple
Anophthalmos
Brain
Brazil
Cerebral Ventricles
Child, Preschool
Female
Humans
Infant
Intellectual Disability
Nose
Phenotype
Syndrome
Tooth Abnormalities

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