Chanarin Dorfman syndrome: Neonatal diagnosis and 3-year follow-up [4]

Indian Pediatrics

Volumn 42, Issue 10, 2005, Pages 1054-1055

  Gupta, Piyush ^a   Kaur, Geetinder ^a  

^a UNIVERSITY COLLEGE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

EMOLLIENT AGENT;

BLOOD CHEMISTRY; BLOOD DISEASE; CASE REPORT; CHANARIN DORFMAN SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; DRY SKIN; DYSLIPIDEMIA; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; ICHTHYOSIS; JORDAN ANOMALY; LETTER; LIPID ANALYSIS; LIPID DIET; LIVER BIOPSY; LIVER DISEASE; MENTAL DEFICIENCY; NEWBORN CARE; SKIN BIOPSY; SKIN MANIFESTATION; URINALYSIS;

FEMALE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; LEUKOCYTES; LIPID METABOLISM, INBORN ERRORS; LIVER DISEASES; SYNDROME;

EID: 27444445278     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974; 110: 261-266.
2. Penabad CP, Almagro M, Martinez W, Silva JG, Pozo JD, Yebra MT et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001; 144: 430-432.
3. Tullu MS, Muranjan MN, Save SU, Deshmukh CT, Khubchandani SR, Bharucha BA. Dorfman-Chanarin syndrome: A rare neutral lipid storage disease. Indian Pediatr 2000; 37: 88-93.
4. Nanda A, Sharma R, Kanwar AJ, Kaur S, Dash S. Dorfman-Chanarin Syndrome. Int J Dermatol 1990; 29: 349-351.
5. Lefvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/ thioesterase subfamily, in Chanarin Dorfman syndrome. Am J Hum Genet 2001; 69: 1002-1012.