Multiple exostoses-mental retardation syndrome. A case report and review of the literature.
A girl seven years ten months of age with multiple exostoses-mental retardation (MEMR) syndrome was treated by bilateral supracondylar osteotomies at the age of six years 11 months for correction of severe genu valgum. The case is the 14th to be described in the English-language literature and seems to be the first on record in which the deformity was corrected by surgery. Typical findings in this syndrome include unusual facial features with bulbous nose, sparse scalp hair, large ears, microcephaly, mental retardation, cone-shaped epiphyses of the digital phalanges, and multiple exostoses. Each of these features may also appear in other constitutional and genetic disorders, and only their combination points to a definite diagnosis of MEMR syndrome. Other features, e.g., joint laxity and loose skin, are transient and may cause some confusion in diagnosis, sometimes leading to a mistaken diagnosis of cerebral palsy or Ehlers-Danlos syndrome. Thus, care must be taken in consecutive examinations to seek and identify each of the above mentioned typical features of the disorder.
D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D010027:Osteotomy; D011859:Radiography; D013577:Syndrome