Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation
Article
Morillo-Cucci, G, Passarge, E, Simpson, JL et al. (1975). Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation
. 11(2), 380-383.
Morillo-Cucci, G, Passarge, E, Simpson, JL et al. (1975). Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation
. 11(2), 380-383.
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.
