Fetal genitourinary anomalies

A 43-year-old woman presented with postpartum haemorrhage necessitating uterine artery embolisation. Prior to embolisation, angiography demonstrated the presence of a persistent sciatic artery (PSA). Due to the possibility of embolic particles inadvertently traveling to the lower extremity via this variant arterial pathway, care was taken to only embolise the uterine artery. PSAs are uncommon but important vascular pathways to screen for during pelvic intervention and are associated with other genitourinary anomalies.

Download Full-text

Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation Contiguous Gene Deletion Syndrome

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_1867 ◽

2009 ◽

pp. 2247-2248

Author(s):

Markus Böhm ◽

Thomas A. Luger ◽

Cem Evereklioglu ◽

Mark Berneburg ◽

Thomas Schwarz ◽

...

Keyword(s):

Mental Retardation ◽

Gene Deletion ◽

Wilms Tumor ◽

Deletion Syndrome ◽

Contiguous Gene ◽

Genitourinary Anomalies ◽

Contiguous Gene Deletion Syndrome

Download Full-text

Genitourinary Anomalies

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_9198 ◽

2009 ◽

pp. 695-696

Author(s):

David J. Timson ◽

Richard J. Reece ◽

James B. Thoden ◽

Hazel M. Holden ◽

Andrea L. Utz ◽

...

Keyword(s):

Genitourinary Anomalies

Download Full-text

A Rare Case of Partial Unilateral Corpus Cavernosum Agenesis With Concomitant Multiple Genitourinary Anomalies

Urology ◽

10.1016/j.urology.2020.05.008 ◽

2020 ◽

Vol 143 ◽

pp. 234-237

Author(s):

Numan Baydilli ◽

Emre Can Akinsal ◽

Ismail Selvi ◽

Abdullah Golbasi ◽

Hakan Imamoglu ◽

...

Keyword(s):

Rare Case ◽

Corpus Cavernosum ◽

Genitourinary Anomalies

Download Full-text

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Journal of Pediatric Genetics ◽

10.1055/s-0039-3402047 ◽

2020 ◽

Vol 09 (04) ◽

pp. 258-262

Author(s):

Siulan Vendramini-Pittoli ◽

Rosana Maria Candido-Souza ◽

Rodrigo Gonçalves Quiezi ◽

Roseli Maria Zechi-Ceide ◽

Nancy Mizue Kokitsu-Nakata ◽

...

Keyword(s):

Cleft Palate ◽

Gene Deletion ◽

System Development ◽

Clinical Findings ◽

Nervous System Development ◽

Central Nervous System Development ◽

Callosal Agenesis ◽

Agenesis Of Corpus Callosum ◽

Skin Defects ◽

Genitourinary Anomalies

AbstractThe authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

Download Full-text