Mental retardation, short stature, almond‐shaped eyes, small downturned mouth and coned epiphyses: A new case of Hunter‐fraser syndrome
- 1 October 1990
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (2) , 283-285
- https://doi.org/10.1002/ajmg.1320370225
Abstract
A 21‐year‐old male with mental retardation, short stature, almond‐shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430–437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.Keywords
This publication has 5 references indexed in Scilit:
- The Sugio‐Kajii syndrome, proposed tricho‐rhino‐phalangeal syndrome type IIIAmerican Journal of Medical Genetics, 1986
- Ruvalcaba syndromeAmerican Journal of Medical Genetics, 1985
- Ruvalcaba syndrome: Autosomal dominant inheritanceAmerican Journal of Medical Genetics, 1984
- A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.Journal of Medical Genetics, 1977
- A new familial syndrome with osseous dysplasia and mental deficiencyThe Journal of Pediatrics, 1971