Mental Retardation With Osteocartilaginous Anomalies
- 1 September 1966
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 112 (3) , 205-213
- https://doi.org/10.1001/archpedi.1966.02090120073006
Abstract
TWO UNRELATED boys were found to resemble each other in a striking array of anomalies which apparently comprise a syndrome which has not been described before. They are small in stature and retarded in mental development. They have very large, soft hands, pectus carinatum, lax ligaments, anomalies of vertebrae and other bones, and a peculiar facies. The prominent frontal bossing, hypertelorism, downward slant of the eyes toward relatively concave maxillae, prognathism of the mandible, crowded teeth, thick nasal septum, and large, low ears give them a grotesque appearance. This brief presentation of their histories may lead to the discovery of similar patients in some of the large hospitals and clinics for the retarded. Report of Cases Patient A.—At birth the patient weighed 7 lb 4 oz (3,289 gm) and appeared well. The mother was 18 years old. Although there were no complications of pregnancy or delivery the patient wasThis publication has 3 references indexed in Scilit:
- Hurler's disease, Morquio's disease, and related mucopolysaccharidosesThe Journal of Pediatrics, 1965
- Cerebral Gigantism in ChildhoodNew England Journal of Medicine, 1964
- Procedures for Testing Urine Specimens Dried on Filter PaperClinical Chemistry, 1959