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May 1983

Congenital Cutis Laxa and Osteoporosis

Author Affiliations

From the Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia (Dr Sakati), and the Department of Pediatrics, University of California at San Diego, La Jolla (Dr Nyhan).

Am J Dis Child. 1983;137(5):452-454. doi:10.1001/archpedi.1983.02140310034008

• 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)