Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance

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Stickler syndrome. Epidemiology of retinal detachment.

OBJECTIVE A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diagnosed, in order to evaluate the risk of suffering a retinal detachment (RD). METHODS A total of 14 patients, diagnosed by clinical criteria, were included. The following variables were evaluated: age, gender, ocular background, follow-up, initial and final visual acuity...

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Clinical and Molecular genetics of Stickler syndrome.

Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular ...

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Acromegaloid facial appearance (AFA) syndrome: report of a second family.

A family is reported in which the 'acromegaloid facial appearance' (AFA) phenotype was segregating through two generations. The five affected persons showed a striking resemblance to the patients previously reported, including progressively coarse acromegaloid-like facial appearance, narrow palpebral fissures, bulbous nose, and thickening of the lips and intraoral mucosa, resulting in exaggerat...

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ژورنال

عنوان ژورنال: Journal of Cranio-Maxillofacial Surgery

سال: 2016

ISSN: 1010-5182

DOI: 10.1016/j.jcms.2016.04.010