Literature DB >> 3786261

Neu-Laxova syndrome: report of two cases.

G G Ejeckam, J K Wadhwa, J P Williams, A G Lacson.   

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 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.

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Year:  1986        PMID: 3786261     DOI: 10.3109/15513818609068856

Source DB:  PubMed          Journal:  Pediatr Pathol        ISSN: 0277-0938


  1 in total

1.  A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

Authors:  Deren Ozcan; Murat Derbent; Deniz Seçkin; Yunus Emre Bikmaz; Muhteşem Ağildere; Annachiara De Sandre-Giovannoli; Nicolas Lévy; Berkan Gürakan
Journal:  Ann Dermatol       Date:  2013-11-30       Impact factor: 1.444

  1 in total

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