| umls-concept:C0796118 | skos:definition | JABL: An association of skeletal abnormalities with facial dysmorphism, neonatal respiratory disorders, and feeding problems due to poor suck. Metaphyseal splying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures comprise skeletal abnormalities. The syndrome was originally reported in two siblings, one of whom had a mild developmental delay and other died in infancy. The proposed name "pointer syndrome" is based on pointing appearance of the index fingers in both patients and their family. | lld:umls |
