Neu-Laxova Syndrome: Report of Two Cases |
| |
Authors: | Gershon G. Ejeckam Jasbir K. Wadhwa John P. Williams Atilano G. Lacson |
| |
Affiliation: | a Department of Pathology, Memorial University of Newfoundland, St. John's, Newfoundland, Canada |
| |
Abstract: | Two cases of Neu-Laxova syndrome are reported. The pathological features are described. There is marked swelling of the palms and soles, which is due to massive fat and myxomatous connective tissue proliferation in addition to edema. Lissencephaly with hypoplasia of cortical descending fibers is observed, along with cerebellar hypoplasia. The occurrence of 2 micro cephalic male and female infants dying shortly after birth in the same sibship with 1 normal baby in between confirms similar findings by others and supports an autosomal-recessive inheritance. The relevance of pathological examination in further delineation of the phenotypic appearance is discussed. |
| |
Keywords: | Neu-Laxova syndrome neurocctodermal dysplasia intrauterine growth retardation ichthyosis |
本文献已被 InformaWorld 等数据库收录! |