Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.
Open Access
- 1 June 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (3) , 212-215
- https://doi.org/10.1136/jmg.17.3.212
Abstract
A sibship is described in which at least two brothers suffer from a unique disorder characterised by ichthyosis, hepatosplenomegaly, and late onset cerebellar ataxia. The clinical features and investigations are described. No metabolic abnormality has been found so far.This publication has 13 references indexed in Scilit:
- A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degenerationBritish Journal of Dermatology, 1979
- Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndromeClinical Genetics, 1975
- Adult‐onset hereditary cerebellar ataxia and neurosensory deafnessClinical Genetics, 1974
- A NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA, AND ITS RELATIONSHIP TO NIEMANN-PICK DISEASEBrain, 1973
- Erythrokeratodermia With AtaxiaArchives of Dermatology, 1972
- THE OLIVOPONTOCEREBELLAR ATROPHIESMedicine, 1970
- ON FAMILIAL ATAXIA, NEURAL AMYOTROPHY, AND THEIR ASSOCIATION WITH PROGRESIVE EXTERNAL OPHTHALMOPLEGIABrain, 1958
- Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.1957
- HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURESPublished by Elsevier ,1956
- Heredopathia atactica polyneuritiformisin children: A preliminary communicationThe Journal of Pediatrics, 1949