Raised intra-ocular pressure in the setting of Coffin-Siris syndrome
نویسندگان
چکیده
منابع مشابه
The Coffin-Siris syndrome.
We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficu...
متن کاملCoffin-Siris syndrome.
In 1970 Coffin and Siris described three unrelated female children with severe mental and developmental retardation, sparse scalp hair, and coarse appearing facies with bushy eyebrows, a wide mouth, and thick lips. There were, in addition, lax joints and brachydactyly of the fifth digits of both hands and feet with absence of the nails and terminal phalanges.' To our knowledge, there have been ...
متن کاملClinical features, diagnostic criteria, and management of Coffin-Siris syndrome.
Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who ha...
متن کاملCoffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
INTRODUCTION We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth finger...
متن کاملThe Intra-Ocular Pressure of Type 2 Diabetic Patients Comparison in Diabetic Retinopathy Grades
Objective: Retinopathy is a microvascular complication of diabetes in the retina. It is hypothesized the aqueous flow decrease in patients with retinopathy which effects the Intra-ocular pressure (IOP). The purpose of this study is to determine whether a significant correlation exists between IOP and diabetic retinopathy grades. Materials and Methods: Our study is analytic cross sectional. Abo...
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ژورنال
عنوان ژورنال: Eye
سال: 2019
ISSN: 0950-222X,1476-5454
DOI: 10.1038/s41433-019-0399-x