BLUE SCLERA AND DEAFNESS
نویسندگان
چکیده
منابع مشابه
Alport's syndrome with blue sclera.
An Indian case of Alport's syndrome who had association of keratoglobus and blue sclerae is described.
متن کاملBrittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).
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.
متن کاملCongenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pach...
متن کاملAdams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
متن کاملDeafness in blue-eyed white cats: the uphill road to solving polygenic disorders.
The pure white cat with luminous blue eyes is an attractive image familiar to many. These animals are well-known to be commonly affected by a congenital hereditary deafness that may affect one or both ears; the deafness is linked to the so-called W gene. Reports of this condition date back to at least the 1930s (Bamber, 1933), and many investigators have studied it in subsequent years (Wolff, 1...
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ژورنال
عنوان ژورنال: Nippon Jibiinkoka Gakkai Kaiho
سال: 1962
ISSN: 0030-6622,1883-0854
DOI: 10.3950/jibiinkoka.65.441