| 3 | Novel variant syndrome associated with congenital hepatic fibrosis显示文摘Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University. | Yusuf Bayraktar Ozlem Yonem Kubilay Varl? Hande Taylan Ali Shorbagi Cenk Sokmensuer | 2015 | World Journal of Clinical Cases2015，3，10： | 0 |
| 4 | Botulinum toxin augmentation as a sequential procedure for residual esotropia in traumatic sixth nerve palsy显示文摘Dear Editor,We want to describe the surgical outcome of a patient with residual esotropia due to sixth nerve palsy with re-resection of the lateral rectus combined with botulinum toxin injection to previously recessed ipsilateral medial rectus. Sixth nerve palsy may be vasculopathic,traumatic,neoplastic, idiopathic and congenital in origin.In acute traumatic cases,greater abduction deficit at onset and bilaterality may negatively contribute to recovery rate^[1].Many surgical approaches have been proposed to be effective in the treatment of chronic cases. | Hande Taylan Sekeroglu Kadriye Erkan Turan Ali Sefik Sanac | 2018 | International Journal of Ophthalmology(English edition)2018，11，12： | 0 |
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