Neu-Laxova syndrome: report of two cases
| Autor: | Gershon G. Ejeckam, Atilano G. Lacson, Jasbir K. Wadhwa, John P. Williams |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Male
Pathology medicine.medical_specialty Lissencephaly Connective tissue Pathology and Forensic Medicine Pregnancy Edema medicine Neu-Laxova syndrome Humans Abnormalities Multiple Pathological Fetal Growth Retardation business.industry Ichthyosis Infant Newborn Anatomy medicine.disease Hypoplasia medicine.anatomical_structure Phenotype Connective Tissue Pediatrics Perinatology and Child Health Female Cerebellar hypoplasia (non-human) medicine.symptom business |
| Zdroj: | Pediatric pathology. 5(3-4) |
| ISSN: | 0277-0938 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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