منابع مشابه
A report of two cases of pyknodysostosis in two children
pyknodysostosis is a rare bone disease characterzed with short stature,wide fontaneles,small chin,hyperdensity of bones,erosion of tufts of the disatl phalanges,and narrowing of the mandibular angle. pyknodysostosis is inheritted as an autosomal recessive disease and may be seen in both sexes at any age.the patients have normal life span.short stature and bone fractures are their major problems...
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Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1980
ISSN: 0022-3050
DOI: 10.1136/jnnp.43.1.91