A patient exhibited cutis laxa, short digits, absent phalanges, and ambiguous genitalia. There is a relationship between serum levels of copper, elastase inhibitor, and α1-antitrypsin to cutis laxa.
Kaye CI, Fisher DE, Esterly NB. Cutis Laxa, Skeletal Anomalies, and Ambiguous Genitalia. Am J Dis Child. 1974;127(1):115-117. doi:10.1001/archpedi.1974.02110200117018