Results 51 to 60 of about 22,740 (218)

Massive seminal vesicle cyst with ipsilateral renal agenesis – Zinner syndrome in a Saudi patient

Urology Annals, 2018
Zinner syndrome is a rare male genitourinary tract disorder associated with seminal vesicle cysts and ipsilateral renal agenesis. Clinical presentation often involves symptoms of the genitourinary tract.
Azhar Farooqui, Loay AlDhahir, Ali Bin Mahfooz   +2 more
doaj   +1 more source

Fraser of cryptophthalmosis syndrome: A case report [PDF]

, 2004
Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B., Golalipour, M.-J., Haidary, K., Khoury, E.   +3 more
core  

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. [PDF]

, 2007
Nonsyndromic defects in the urinary tract are the most common cause of end-stage renal failure in children and account for a significant proportion of adult nephropathy. The genetic basis of these disorders is not fully understood.
ALLEGRI L., AM J HUM GENET, BARASCH J, CARIDI G, CARREA A, CASU D, DAGNINO M, GHARAVI AG, GHIGGERI GM, IZZI C, KONKA A, RAVAZZOLO R, SANNA-CHERCHI S, SCHMIDT-OTT KM, SCOLARI F, SERI M, SOMENZI D, WENG PL   +17 more
core   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

PHEOCHROMOCYTOMA AND RENAL AGENESIS [PDF]

Acta Medica Iranica, 2008
Pheochromocytomas are cathecolamine producing tumor arising from chromaffin cells of adrenal medulla and extra adrenal tissues. This is a report of a boy presented with headache and hypertension.
A Nickavar , M Razzaghy-Azar
doaj   +1 more source

22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report. [PDF]

, 2016
Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ ...
Ben Ali, N., Bouquet de la Joliniere, J., Capoccia Brugger, R., Feki, A., Grant, G.E., Jotterand, M., Vachette, M.   +6 more
core   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Radical Surgical Treatment of A Large Seminal Vesicle Cyst Causing Acute Urinary Retention in A Patient with Zinner Syndrome: A Case Report and Review of Literature

Journal of Urological Surgery, 2021
Herein, we report a case of a large and complex seminal vesicle cyst causing urinary retention in a young patient with left renal agenesis, psychotic disorder, and deep venous thrombosis.
Dejan Djordjevic, Svetomir Dragicevic, Marko Vukovic   +2 more
doaj   +1 more source

Isolated congenital tracheal stenosis in a preterm newborn [PDF]

, 2011
Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns.
Ulrich Krause, Ralph M. W. Rödel, Thomas Paul   +2 more
core   +1 more source