Urethral duplication as cause of incontinence in a 5-year-old female: Treatment of a rare congenital condition

2021 ◽  
Vol 79 ◽  
pp. S1794
Author(s):  
C. Sinatti ◽  
D. Wolff ◽  
M.Y. Schechter ◽  
E. Van Laecke ◽  
P. Hoebeke ◽  
...  
Keyword(s):  
Urethral Duplication ◽  
Congenital Condition

scholarly journals Ophthalmological findings in children with non-syndromic craniosynostosis: preoperatively and postoperatively up to 12 months after surgery

2021 ◽  
Vol 6 (1) ◽  
pp. e000677
Author(s):  
Evangelia Ntoula ◽  
Daniel Nowinski ◽  
Gerd Holmstrom ◽  
Eva Larsson
Keyword(s):  
Visual Acuity ◽  
University Hospital ◽  
Cranial Sutures ◽  
Sagittal Craniosynostosis ◽  
Syndromic Craniosynostosis ◽  
Disc Oedema ◽  
Before And After ◽  
Congenital Condition ◽  
Skull Deformity

AimsCraniosynostosis is a congenital condition characterised by premature fusion of one or more cranial sutures. The aim of this study was to analyse ophthalmic function before and after cranial surgery, in children with various types of non-syndromic craniosynostosis.MethodsChildren referred to Uppsala University Hospital for surgery of non-syndromic craniosynostosis were examined preoperatively. Visual acuity was measured with Preferential Looking tests or observation of fixation and following. Strabismus and eye motility were noted. Refraction was measured in cycloplegia and funduscopy was performed. Follow-up examinations were performed 6–12 months postoperatively at the children’s local hospitals.ResultsOne hundred twenty-two children with mean age 6.2 months were examined preoperatively. Refractive values were similar between the different subtypes of craniosynostosis, except for astigmatism anisometropia which was more common in unicoronal craniosynostosis. Strabismus was found in seven children, of which four had unicoronal craniosynostosis.Postoperatively, 113 children were examined, at mean age 15.9 months. The refractive values decreased, except for astigmatism and anisometropia in unicoronal craniosynostosis. Strabismus remained in unicoronal craniosynostosis. Two new cases with strabismus developed in unicoronal craniosynostosis and one in metopic, all operated with fronto-orbital techniques. No child had disc oedema or pale discs preoperatively or postoperatively.ConclusionOphthalmic dysfunctions were not frequent in children with sagittal craniosynostosis and preoperative ophthalmological evaluation may not be imperative. Children with unicoronal craniosynostosis had the highest prevalence of strabismus and anisometropia. Fronto-orbital techniques used to address skull deformity may be related to a higher prevalence of strabismus postoperatively.

Urodynamic performance in boys with Y-type urethral duplication

2018 ◽  
Vol 53 (7) ◽  
pp. 1326-1329
Author(s):  
Ye Zhang ◽  
Yanchao Qu ◽  
Lili Jiao ◽  
Weiping Zhang ◽  
Ning Sun ◽  
...  
Keyword(s):  
Urethral Duplication

Case of urethral duplication seen by voiding urosonography

2018 ◽  
Vol 49 ◽  
pp. 106-110 ◽  
Author(s):  
Hanisha Patel ◽  
Christopher Watterson ◽  
Jeanne S. Chow
Keyword(s):  
Urethral Duplication ◽  
Voiding Urosonography

Urethral duplication with posterior urethral valves in each moeity

2003 ◽  
Vol 33 (11) ◽  
pp. 794-796
Author(s):  
Gaurav Saigal ◽  
George Abdenour ◽  
E. Michael Azouz ◽  
Sudha D Lolayekar
Keyword(s):  
Posterior Urethral Valves ◽  
Urethral Duplication ◽  
Urethral Valves

scholarly journals Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Domenico Dell’Edera ◽  
Arianna Allegretti ◽  
Mario Ventura ◽  
Ludovica Mercuri ◽  
Angela Mitidieri ◽  
...  
Keyword(s):  
Learning Difficulties ◽  
Clinical Signs ◽  
Mendelian Inheritance ◽  
Comparative Genomic ◽  
Chromosome 22 ◽  
Case Presentation ◽  
Mrkh Syndrome ◽  
Altered Gene Expression ◽  
Congenital Condition ◽  
Altered Gene

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). Case presentation In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome. Conclusions The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome.

Camptodactyly: A Finger Deformity in a Young Violinist

2000 ◽  
Vol 15 (2) ◽  
pp. 75-78
Author(s):  
Gerald P Melchor ◽  
Alice G Brandfonbrener
Keyword(s):  
Case Report ◽  
General Population ◽  
Surgical Correction ◽  
Flexion Deformity ◽  
Pip Joint ◽  
Congenital Condition ◽  
The Right ◽  
Little Finger

This report documents a congenital condition previously undescribed in a young musician. Uncommon and affecting between 1% and 2% of the general population, camptodactyly is an atraumatic, congenital flexion deformity of the proximal interphalangeal (PIP) joint of the finger, most often the right little finger, as seen in our patient.1 While this condition is not normally of great significance, except when present as part of a wider syndrome, its occurrence as described in this case report has great implications for musicians in that it may have detrimental effects on their ability to perform. Attempts at surgical correction of such a defect, in itself controversial, might further affect a musician’s ability to return to performance as well as to continue studying his or her instrument.

Development of a Strain of Rabbits with Congenital Simple Nonsyndromic Coronal Suture Synostosis Part I: Breeding Demographics, Inheritance Pattern, and Craniofacial Anomalies

1994 ◽  
Vol 31 (1) ◽  
pp. 1-7 ◽  
Author(s):  
Mark P. Mooney ◽  
H. Losken Wolfgang ◽  
Michael I. Siegel ◽  
Janice F. Lalikos ◽  
Albert Losken ◽  
...  
Keyword(s):  
Litter Size ◽  
Rabbit Model ◽  
Pedigree Analysis ◽  
Human Populations ◽  
Incomplete Penetrance ◽  
Coronal Suture ◽  
Inheritance Pattern ◽  
Average Litter Size ◽  
Midfacial Hypoplasia ◽  
Congenital Condition

The lack of an animal model of congenital coronal suture (CS) synostosis has prompted the widespread use of an experimental rabbit model using adhesive Immobilization of the CS. Such postnatal models have helped make significant scientific contributions but may still not fully represent all aspects of the human congenital condition. In the March 1993 issue of The Cleft Palate-Craniofacial Journal we reported a female rabbit born in our laboratory with complete bilateral CS synostosis. This follow-up study presents our attempts to breed this animal and establish a strain of cranlosynostotic rabbits. To date, we have accomplished 10 back- and intercrosses with these animals and have produced a total of 71 live offspring; 10 animals exhibited complete nonsyndromic unilateral (plagiocephalic) or bilateral (brachycephalic) CS synostotic deformities at birth, and 19 animals exhibited partial CS synostosis that showed more than 75% growth retardation across the CS (well below the 95% confidence interval for normals). Results revealed that gestational time and litter size averages were consistent with those reported for the strain, although the average litter size decreased with increased inbreeding. By 1.5 weeks of age the completely synostosed animals already exhibited brachycephalic cranial vaults and midfacial hypoplasia compared to unaffected siblings. Initial pedigree analysis suggested an autosomal dominant inheritance pattern with incomplete penetrance and variable expressivity. The development of such a congenital rabbit model may prove useful In helping to understand the etiopathogenesis of this condition In human populations.

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