Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey
- 31 August 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (1) , 6-9
- https://doi.org/10.1002/ajmg.1320370103
Abstract
Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X‐linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.Keywords
This publication has 14 references indexed in Scilit:
- Congenital cutis laxa with retardation of growth and development.Journal of Medical Genetics, 1987
- Variable clinical presentation of cutis laxaClinical Genetics, 1985
- Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural studyJournal of Cutaneous Pathology, 1983
- X-Linked Cutis LaxaNew England Journal of Medicine, 1980
- TWO FORMS OF CUTIS LAXA PRESENTING IN THE NEWBORN PERIODActa Paediatrica, 1978
- Cutis laxa with intrauterine growth retardation and hip dislocation in a maleThe Journal of Pediatrics, 1978
- Cutis LaxaArchives of Dermatology, 1975
- The dominant and recessive forms of cutis laxa.Journal of Medical Genetics, 1972