期刊论文详细信息
Medicina Fluminensis
Bladder exstrophy – epispadias complex with atrial septal defect: report of a rare case and review of literature
Čače, Neven2  Pereza, Nina1  Nikolić, Harry3 
[1] Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, HrvatskaDepartment of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia;Odjel kardiopulmologije, Klinika za dječje bolesti, Klinički bolnički centar Rijeka, Rijeka, HrvatskaDepartment of cardiopulmology, Clinics for children's diseases, Clinical hospital centre Rijeka, Rijeka, Croatia;Zavod za dječju kirurgiju, Klinika za dječje bolesti, Klinički bolnički centar Rijeka, Rijeka, HrvatskaDepartment of pediatric surgery, Clinics for children's diseases, Clinical hospital centre Rijeka, Rijeka, Croatia
关键词: congenital heart defects;    congenital midline defects;    genetics;    OEIS complex;   
DOI  :  
学科分类:医学(综合)
来源: Medicina Fluminensis
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【 摘 要 】

Aim: Bladder exstrophy-epispadias complex (BEEC) comprises a group of congenital midline defects which result from the failure of fusion of the entire infraumbilical abdominal wall including musculoskeletal structures of the pelvis, urogenital and gastrointestinal system and the spine. The aim of this paper is to present a case of a girl with bladder exstrophy and epispadias in
combination with atrial septal defect and to provide a review of recent discoveries in the etiology of bladder exstrophy-epispadias complex.
Case report: The girl was born with a defect in the anterior abdominal wall from umbilicus to genitalia with widely separated pubic symphyses, bladder exstrophy, low set umbilical cord which was inserted at the top of the bladder, epispadias and bifid clitoris. The urothelium of the bladder was everted through the midline defect. The child presented with no craniofacial dysmorphic features except for a mild diastasis of the sagittal suture. The cytogenetic analysis of peripheral blood lymphocytes from the patient showed a normal female karyotype (46,XX). After the complete clinical evaluation, Doppler echocardiography determined an atrial septal defect, but because of the minimal hemodynamic eff ect the therapy of the heart defect is currently not indicated.
Discussion: BEEC is usually considered an isolated defect, but anomalies outside the classically affected regions in the bladder exstrophy-epispadias complex, although extremely rare, have been described. To our knowledge this is the fifth described case of congenital heart defect and the second case of atrial septal defect in combination with bladder exstrophy and epispadias. New research shows that there might be rare forms of BEEC which include other congenital defects of the midline and that the presence of heart defects or orofacial clefts is not a random event but a pathogenetically related mechanism which might be under genetic control.

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