Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome.
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.
D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics*; D009264:Nails, Malformed; D011629:Puberty, Precocious / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics