A NEW FORM OF X-LINKED MENTAL-RETARDATION WITH GROWTH-RETARDATION, DEAFNESS, AND MICROGENITALISM

  • 1 January 1980
    • journal article
    • research article
    • Vol. 32  (5) , 714-722
Abstract
The proband and 2 maternal uncles were similarly affected by a unique constellation of mental retardation and physical abnormalities. There were severe retardation, growth < the 3rd percentile, and significantly delayed bone age. They manifested deafness, a flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism, and one had a small penis. The proband also had onychodystrophy of his fingers and toes. Their birth weights and lengths were less than expected. No chromosomal or biochemical abnormality was detected. Both uncles died, but the proband is healthy at 4 yr. Their phenotype is distinguished from other forms of X-linked mental retardation and appears to be a new syndrome.