RESUMO

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.

Assuntos

Córnea/anormalidades , Genes Recessivos , Transtornos do Crescimento/genética , Pré-Escolar , Consanguinidade , Feminino , Humanos , Lactente , Masculino , Fenótipo , Síndrome