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 was
COFFIN GS, SIRIS E, WEGIENKA LC. Mental Retardation With Osteocartilaginous Anomalies. Am J Dis Child. 1966;112(3):205-213. doi:10.1001/archpedi.1966.02090120073006