• A 16-month-old male infant was studied who had a syndrome of cutis laxa and Incapacitating osteoporosis. The bones displayed evidence of multiple fractures, with impaction and deformities even in the absence of weight bearing. In addition, the infant had large ears and antimongolold obliquity of the palpebral fissures.
(Am J Dis Child 1983;137:452-454)
Sakati NO, Nyhan WL. Congenital Cutis Laxa and Osteoporosis. Am J Dis Child. 1983;137(5):452-454. doi:10.1001/archpedi.1983.02140310034008