Biomedical subjects
Publications and source records attributed to J Garfinkle.
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
One hundred and seventy-eight infants with birth weights less than or equal to 1500 g born in 1973-1975 were followed for a period of 1-3 years, and the physical, neurological, and developmental outcome evaluated. Although there was a high incidence of maternal problems, these did not correlate with outcome. Asphyxia at birth followed by neonatal complications leading to ventilatory assistance was significantly correlated with poor outcome. Over 50% of infants less than 100 g birth weight required assisted ventilation, but the outcome in small ventilated infants was comparable to that of ventilated infants of 1001-1500 g birth weight. Infants with neurological abnormality showed a high incidence of associated abnormalities in growth, vision, hearing, and development. Spastic quadriplegia emerged as the most common neurological diagnosis. Despite the many perinatal problems, 82% of the group were normal neurologically and 66% developmentally. The overall outcome was generally favorable in these infants even for those requiring ventilation.