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- W1550528052 abstract "There is an expanding list of syndromes that combine ichthyosis with neuroectodermal and mesodermal defects. We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities. There were no neurologic or auditory defects. Hair examination revealed pili torti, trichoschisis, bright and dark bands with polarizing microscopy, and a low hair sulfur content. The patient did not have aminoaciduria or immunoglobulin abnormalities. We believe that this case is a link between the ichthyosis-associated syndromes and the group of syndromes that have in common abnormal hair with clean transverse fractures (trichoschisis) and low sulfur content. A more complete examination of the hair in other patients with ichthyosis and associated abnormalities will probably reveal more patients with this new syndrome." @default.
- W1550528052 created "2016-06-24" @default.
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- W1550528052 date "1980-04-01" @default.
- W1550528052 modified "2023-09-25" @default.
- W1550528052 title "Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities" @default.
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- W1550528052 doi "https://doi.org/10.1016/s0190-9622(80)80043-0" @default.
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