A GIRL WITH WOLF-HIRSCHORN SYNDROME AND MOSAICISM.

Autor: Judge, C. G., Garson, O. M., Pitt, D. B., Sutherland, G. R.
Předmět:
Zdroj: Journal of Mental Deficiency Research; Mar1974, Vol. 18 Issue 1, p79-85, 7p
Abstrakt: The article cites a study in which chromosomal analysis of an eleven-year-old mentally retarded girl showed karyotype. The clinical features of the Wolf-Hirschorn syndrome show an aggregation which is specific and which in only a few instances resembles the cri-du-chat syndrome. As with the majority of autosomal conditions associated with mental retardation there is the usual high incidence of short stature, microcephaly, micrognathia, low-set ears, epicanthi, strabismus, etc. Clinical features in the case suggest a diagnosis of Wolf-Hirschorn syndrome, and this is confirmed by cytogenetic studies.
Databáze: Supplemental Index