Sjögren-Larsson syndrome: report of a case in India.
The case of a six-year-old Indian girl with Sjögren-Larsson syndrome is reported. She displayed the classic triad of oligophrenia, ichthyosis, and spastic paraparesis. There was a history of parental consanguinity. The features that were absent were hypertelorism, pigmentary degeneration of the retina, simian creases of the palms, and aminoaciduria.
Patki
A H
AH
Indira Medico Clinic, Pune, India.
D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007194:India; D010375:Pedigree; D016111:Sjogren-Larsson Syndrome / Q000235:genetics / Q000473:pathology*