Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation Article

cited authors

  • Morillo-Cucci, G; Passarge, E; Simpson, JL; Chaganti, RS; German, J

fiu authors

abstract

  • The strikingly similar patterns of developmental abnormalities the authors observed in the 2 mentally retarded brothers described here indicate that they have a syndrome, one very possibly genetically determined. The features these brothers share are the following: an unusual facies, short stature, hyperextensibility of the joints, bilateral clinodactyly of the 5th finger and mental retardation. Although chromosomal imbalance is a possibility, no evidence for this was obtained by quinacrine fluorescence and G banding technics. That both sibs were male suggests X linked inheritance, but autosomal recessive transmission is the other good possibility.

publication date

  • December 1, 1975

start page

  • 380

end page

  • 383

volume

  • 11

issue

  • 2