Urogenital Abnormalities in Adenosine Deaminase Deficiency [PDF]
Abstract Background Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pubertal progress
Francesca Ferrua +2 more
exaly +7 more sources
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis [PDF]
Background Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.
Caterina Maria Rossetti +7 more
doaj +6 more sources
Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses. [PDF]
Fluctuating asymmetry (FA), as an indirect measure of developmental instability (DI), has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown.
Clara Mariquita Antoinette ten Broek +5 more
doaj +21 more sources
Congenital urogenital abnormalities in children with congenital hypothyroidism. [PDF]
Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to ...
Yousefi Chaijan P +6 more
europepmc +4 more sources
Association of neonatal and fetal malformations with polyhydramnios and oligohydramnios - introduction of a new “association factor” [PDF]
Background Our aim was to investigate the association of different neonatal and fetal anatomical abnormalities with polyhydramnios or oligohydramnios during prenatal ultrasonography.
Artur Beke, Aténé Simonyi
doaj +2 more sources
Goldenhar syndrome and urogenital abnormalities
The Goldenhar syndrome (oculo-auriculo-vertebral syn-drome or 1st and 2nd branchial arch syndrome) is a com-plex of craniofacial anomalies. It has been associated with anomalies in other systems and with abnormalities of the urogenital system. We present
Mohan Marulaiah +3 more
doaj +2 more sources
Perinatal diagnosis of congenital urogenital sinus abnormality
AbstractAnomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital
Riccardo Fiorentino +2 more
exaly +4 more sources
Associated congenital genitourinary and intestinal anomalies: A case report [PDF]
The female urogenital tract originates in the intermediate mesoderm, with the Müllerian ducts being critical for uterine, vaginal, and tubal formation.
Noemi Aparecida Betini Venturim +6 more
doaj +2 more sources
A rare presentation of the Klinefelter's syndrome [PDF]
A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
core +2 more sources
Objective: To determine the frequency of congenital anomalies of the kidney and urinary tract by means of ultrasound in neonates. Study Design: Cross-sectional study.
Uzma Rasool +4 more
doaj +1 more source

