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Keywords:

  • dysplasia;
  • ectodermal dysplasia;
  • puberty (precocious);
  • multiple congenital anomalies/mental retardation (MCA/MR) syndrome;
  • autosomal recessive inheritance

Abstract

We report on a 6-year-old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene.