Search results for "Phimosis"
showing 4 items of 4 documents
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis di…
2020
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown.Methods: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes.Results: Of 20 individuals, 14 showed…
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
2014
International audience; Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 micro-deletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously r…
Benign penile skin anomalies in children: a primer for pediatricians
2015
Abstract BACKGROUND: Abnormalities involving the skin coverage of the penis are difficult to define, but they can significantly alter penile appearance, and be a cause of parental concern. DATA SOURCES: The present review was based on a nonsystematic search of the English language medical literature using a combination of key words including "penile skin anomalies" and the specific names of the different conditions. RESULTS: Conditions were addressed in the following order, those mainly affecting the prepuce (phimosis, balanitis xerotica obliterans, balanitis, paraphimosis), those which alter penile configuration (inconspicuous penis and penile torsion), and lastly focal lesions (cysts, nev…
Circumcision in Nesbit Corporoplasty: A Mandatory Time? Our Experience on 158 Patients
2011
Introduction The Nesbit procedure is the most common surgical technique to correct congenital or acquired penile curvature. It is a common opinion that this surgical procedure has to be completed with a circumcision to prevent foreskin necrosis or phimosis. According to our experience we believe that some procedural “tricks” could strongly reduce that mechanical and ischemic trauma on the foreskin responsible for these complications. Materials and Methods From 1988 to 2010 we selected 158 patients treated with Nesbit's corporoplasty. The procedure was recommended to patients who presented a penile curvature wider than 30° and reporting however some difficulty or pain at coitus, or to patien…