A Distinct syndrome in the group of congenital skeletal disturbances. It is characterized by microcehaly, hypoplastic genitalia, mental (not invariably) and physical retardation, short stature, peculiar facies, micrognathia with crowded teeth and narrow thoracic cage with pectus carinatum. Occur in in males and present from birth. Inheritance is autosomal recessive.
- R. H. A. Ruvalcaba, A. Reichert, D. W. Smith:
A new familial syndrome with osseous dysplasia and mental deficiency.
Journal of Pediatrics, St. Louis, 1971, 79: 450-455.
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