descriptionPublicationkeyboard_double_arrow_right Article 01 May 1983 English Publisher:American Medical Association (AMA)Journal:Archives of Pediatrics & Adolescent Medicine, volume 137, page 452 (issn: 1072-4710,

Authors: Nadia Sakati; William L. Nyhan;

doi: 10.1001/archpedi.1983.02140310034008

pmid: 6846273

Congenital Cutis Laxa and Osteoporosis

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Abstract

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 antimongoloid obliquity of the palpebral fissures.

Keywords

Male, Radiography, Consanguinity, Fractures, Bone, Humans, Infant, Osteoporosis, Syndrome, Cutis Laxa, Spine

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