1315 SYNDROMIC AND ISOLATED CRYPTOPHTHALMOS
نویسندگان
چکیده
منابع مشابه
Syndromic and isolated cryptophthalmos.
Cryptophthalmos is the congenital absence of eyelid with skin passing continuously from the head to the cheeks over a malformed eye. The term cryptophthalmos was coined by Zehender and Manz in 1872, when they first described a patient with bilateral cryptophthalmos and multiple congenital anomalies(l). In 1962 Fraser described 4 cases of cryptophthalmos and multiple malformations in two sibship...
متن کاملIsolated Bilateral Complete Cryptophthalmos.
Cryptophthalmos is a rare congenital anomaly, characterized by extension of the skin continuously from forehead onto the cheeks and covering eyeballs. Although cryptophthalmos, as a part of Fraser syndrome, has been reported many times, isolated cryptophthalmos without systemic associations is very rare. We present a 6-month- old child with isolated bilateral complete cryptophthalmos, which to ...
متن کاملDmd065326 1307..1315
Accurate determination of rates of de novo synthesis and degradation of cytochrome P450s (P450s) has been challenging. There is a high degree of variability in the multiple published values of turnover for specific P450s that is likely exacerbated by differences in methodologies. For CYP3A4, reported half-life values range from 10 to 140 hours. An accurate value for kdeg has been identified as ...
متن کاملThe cryptophthalmos syndrome.
The cryptophthalmos syndrome, first reported by Zehender and Manz in 1872, and described in detail by Francois, is a systemic congenital malformation characterized by cryptophthalmia in association with craniofacial, otorbinolaryngologic, urogenital and extremity abnormalities. All of the features of the syndrome may not always appear in the same patient. In this report, a ease with cryptophtha...
متن کاملDdh146 1315..1319
Department of Genetic Medicine, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia, Department of Paediatrics and Department of Molecular Biosciences, University of Adelaide, South Australia, Australia, Departments of Neurology, Molecular Physiology and Biophysics and Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA, Epilepsy Research Instit...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-01339