Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.
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-pattern cerebro-oculo-nasal syndrome.
Richieri-Costa
A
A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics; D000853:Anophthalmos / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D001938:Brazil; D002552:Cerebral Ventricles / Q000002:abnormalities; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics