Neu-Laxova syndrome: report of two cases.
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 microcephalic 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.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003238:Connective Tissue / Q000473:pathology; D004487:Edema / Q000150:complications; D005260:Female; D005317:Fetal Growth Retardation / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy