REDUCED HAIR SULPHUR IN A RECESSIVE SYNDROME OF “BRITTLE” HAIR, SHORT STATURE, INTELLECTUAL IMPAIRMENT AND DECREASED FERTILITY
نویسندگان
چکیده
منابع مشابه
A Noonan-like short stature syndrome with sparse hair.
Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormali...
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A 4-month-old, intact male domestic short-hair cat was presented to Veterinary Hospital with an acuteonset of regurgitation and respiratory distress. Thoracic and abdominal radiographs identified a massconsisted of a heterogeneous mixture of soft tissue and gas densities between heart and craniodorsal part of the diaphragm that was shifted to the left. The stomach could not be seen clearly. Rad...
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A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.
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Sodium valproate has been widely used by man as an antiepileptic drug. Hair loss and curly hair is a rare side effect of sodium valproate. We have conducted a prospective clinical study in the Department of Neurology in Shafa Hospital, Kerman, Iran for ten years (1994-2004). All 211 epileptic patients in our study were given sodium valproate as a single drug treatment. During the course of ther...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00613