Abstract: (8696 Views)
ABSTRACT
Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, epicantal folds and antimongloid slants in eyes and umbilical hernia was presented. CXR and echocardiography was normal X-Ray of the hips show bilateral dislocation. Lab study results including CBC. P, Ca, ALP, thyroid function test, U/A and U/C were normal. Pathology study of skin biopsy was compatible with cutis laxa.
Type of Study:
Research |
Subject:
Pediatric Disease