Results 31 to 40 of about 739 (175)
Case report: Hydrometrocolpos conditioning recurrent urinary tract infections
Frontiers in Surgery, 2022 We present a case of a 12.5-year-old girl who has suffered from recurrent urinary tract infections for many years but has never undergone a detailed diagnostic process.
Ewelina Malanowska +6 more
doaj +1 more source
Clinical Genetics, Volume 101, Issue 2, Page 183-189, February 2022., 2022 Abstract The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and anogenital malformations.
Servi J. C. Stevens +14 more
wiley +1 more source
Age‐dependent phenotypes of ovarian endometriomas
Reproductive Medicine and Biology, Volume 21, Issue 1, January/December 2022., 2022 Abstract Purpose To analyze the characteristics of the ovarian endometrioma (OE) across the life span of a woman. In the past, the OE has traditionally been viewed as a single, monolithic disease. Today, there are emerging data indicating that OE phenotypes differ according to the age of the woman.
Giuseppe Benagiano, Sun‐Wei Guo
wiley +1 more source
Imperforate Hymen: A Rare Cause of Abdominopelvic Mass in an Infant
Journal of Nepal Health Research Council, 2021 Symptomatic imperforate hymen is very rare in infants. Here we report a neonate who presented with imperforate hymen with abdominal distension, fever and loose stool.
Baburam Dixit Thapa, Mohan Chandra Regmi
doaj +1 more source
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes
American Journal of Medical Genetics Part A, Volume 185, Issue 8, Page 2409-2416, August 2021., 2021 Abstract Oral‐facial‐digital syndromes (OFDS) are a heterogeneous and rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity, face, and digits caused by dysfunction of the primary cilium, a mechanosensory organelle that exists atop most cell types that facilitates organ patterning and growth. OFDS is inherited
Alanna Strong +9 more
wiley +1 more source
Hydro-metro-colpos diagnosed in utero
Journal of Pediatric Surgery Case Reports, 2022 Hydro (metro)colpos (H(M)C) should be suspected in any female foetus with a pelvic fluid mass. This malformation has a very variable spectrum from a simple imperforate hymen, a persistent urovaginal sinus, or to a cloacal malformation. It can be isolated
Shahzia Lambat Emery +4 more
doaj +1 more source
Hydrometrocolpos in neonate with imperforate hymen: Diagnosis and treatment [PDF]
, 2020 Background: Hydrometrocolpos is a rare condition. Hydrometrocolpos is a cystic dilatation of the uterovaginal with fluid accumulation due to a combination of stimulation of secretory glands of the reproductive tract and vaginal obstruction such as ...
Jimmy Yanuar Annas +3 more
core +1 more source
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks′ gestation
Indian Journal of Pathology and Microbiology, 2012 Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females ...
Sunil Jaiman +3 more
doaj +1 more source
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
American Journal of Medical Genetics Part A, Volume 182, Issue 7, Page 1681-1689, July 2020., 2020 Abstract Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates ...
Felix Kunz +10 more
wiley +1 more source