Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios [PDF]
Taiwanese Journal of Obstetrics & Gynecology, 2013 Objective: To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation. Case report: A 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in ...
Chih-Ping Chen +3 more
doaj +2 more sources
Urinary Type Hydrometrocolpos and Polydactyly in Two Newborns: Case Report [PDF]
Iranian Journal of Neonatology, 2021 Background: Abdominal masses secondary to urinary retention are rare among female neonates and approaching this pathologic condition, inevitably, poses a diagnostic challenge.
Ziba Mosayebi +6 more
doaj +1 more source
Congenital imperforate hymen with hydrocolpos and hydronephrosis associated with severe hydramnios and increase of maternal ovarian steroidogenic enzymes [PDF]
, 2010 This is a clinical research paperStudy Objective: To study clinical features of patient presented with severe hydramnios, associated with hydronephrosis, that was antenatally diagnosed and has been successfully treated immediately after birth.
Karteris, E +3 more
core +6 more sources
A Rare Case of Neglected Transverse Vaginal Septum with Poor Consequences: A Case Report [PDF]
Journal of Kerman University of Medical Sciences, 2021 Background: Transverse vaginal septum is a rare mullerian anomaly. Patients with a complete transverse vaginal septum generally complain of primary amenorrhea.
Tahereh Eftekhar +8 more
doaj +1 more source
Correction: Trifid epiglottis in a neonate with choanal atresia and hydrometrocolpos: the third reported case and the first symptomatic neonatal presentation [PDF]
BMC PediatricsMahdieh Khorashadizadeh +3 more
doaj +2 more sources
Radiological Diagnosis of Neonatal Hydrometrocolpos- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2016 A three-day-old female child presented to us with abdominal distension and lower limb swelling. On ultrasound examination, there was a cystic mass contiguous with the uterus in the lower abdomen and pelvis which showed fluid- debris level. This mass was
B R Nagaraj +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 10, October 2023., 2023 We first identified two rare compound variants in EVC2 gene in a Chinese family using whole exome sequencing. In addition, we further enhanced that application of whole exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.
Jianlong Zhuang +7 more
wiley +1 more source
Perinatal diagnosis of congenital urogenital sinus abnormality
Congenital Anomalies, Volume 63, Issue 5, Page 170-173, September 2023., 2023 Abstract Anomalies 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.
Riccardo Fiorentino +9 more
wiley +1 more source
Case Reports in Urology, Volume 2023, Issue 1, 2023., 2023 Prune belly syndrome (PBS) is a rare congenital anomaly characterized by a triad of abdominal flaccidity, varying degrees of urinary system involvement, and cryptorchidism. The exact cause of PBS is unknown. Clinical symptoms can range from stillbirth to significant renal and respiratory abnormalities to almost normal children.
Ibraheem M. Alkhawaldeh +5 more
wiley +1 more source
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
Molecular Genetics &Genomic Medicine, Volume 10, Issue 5, May 2022., 2022 Here, we report a patient with polydactyly, renal particularities, anal imperforation, and malformation of genitals in the context of 46,XY karyotype. Complex genital malformation and anal imperforation are not reported in male BBS4 patient to date.
Natacha Sloboda +14 more
wiley +1 more source