Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus
نویسندگان
چکیده
منابع مشابه
Congenital talipes equinovarus
Congenital talipes equinovarus, more commonly known as clubfoot, is a idiopathic congenital birth defect that affects in 1 in 1000 births. 1 The most widely used and well known treatment is the Ponseti method commonly followed by an Achilles tenotomy. This method is effective on roughly 90% of all cases. The severity of this idiopathic birth defect can be scored using a few different methods. T...
متن کاملCongenital idiopathic talipes equinovarus.
2004;25;124 Pediatrics in Review Benjamin D. Roye, Joshua Hyman and David P. Roye, Jr Congenital Idiopathic Talipes Equinovarus http://pedsinreview.aappublications.org/content/25/4/124 located on the World Wide Web at: The online version of this article, along with updated information and services, is http://pedsinreview.aappublications.org/content/suppl/2005/01/26/25.4.124.DC1.html Data Supple...
متن کاملThe classification of congenital talipes equinovarus.
e have assessed the reliability of four classification systems for club foot. Four observers evaluated nine children (18 feet) at different stages in the first six months of life, a total of 180 examinations. Each observer independently assessed all feet according to the classification systems described by Catterall, Diméglio et al, Harrold and Walker, and Ponseti and Smoley. The variation betw...
متن کاملCongenital talipes equinovarus: an epidemiological study in Sicily
BACKGROUND AND PURPOSE Congenital talipes equinovarus (clubfoot) can present in 2 forms: "syndromic", in which other malformations exist, and the more common "idiopathic" form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors. PATIENTS AND METHODS Among the 80...
متن کاملFacial features in children with idiopathic congenital talipes equinovarus.
We assessed whether there is a recognisable pattern of facial morphology in photographs of a series of 62 children with idiopathic congenital talipes equinovarus (CTEV). Photographs were scored for a number of facial characteristics by a research team comprising orthopaedic surgeons and clinical geneticists, to identify a subgroup of children with idiopathic CTEV, who shared characteristic faci...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2020
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2020.11038