Results 141 to 150 of about 47,634 (314)

Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness (KID) Syndrome With Topical Mefenamic Acid

Pediatric Dermatology, Volume 43, Issue 1, Page 145-148, January/February 2026.
ABSTRACT Keratitis–ichthyosis–deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin ...
Radhika Gupta, Alisa Ho, Lars Brichta, Albert C. Yan   +3 more
wiley   +1 more source

Psychosocial Adjustment, Health-Related Quality of Life, and Psychosexual Development of Boys with Hypospadias: A Systematic Review [PDF]

, 2017
Objective A systematic review of studies on psychosocial adjustment, HRQoL (health-related quality of life), and psychosexual development of boys with hypospadias. Methods Research was conducted on several online bibliographic databases.
Landolt, Markus A., Schönbucher, Verena B., Weber, Daniel M.   +2 more
core  

Knowledge gaps and information seeking by parents about hypospadias

, 2020
Katherine H. Chan, Janet Panoch, Aaron E. Carroll, Sarah E. Wiehe, Mark P. Cain, Richard M. Frankel   +5 more
openalex   +2 more sources

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul, Maya David, Jordin Frasch, Pedro A. Sanchez-Lara, Bahareh M. Schweiger, Andrea Scaramuzza   +5 more
wiley   +1 more source

Hypospadias in a newborn puppy

Veterinary Record Case Reports, Volume 14, Issue 1, February 2026.
Catherine Ennett, Marta Pereira
wiley   +1 more source

Prevalence and Factors Associated with Urologic Abnormalities in Hypospadias Patients

Siriraj Medical Journal
Objective: To estimate the prevalence of urinary tract abnormalities in boys with hypospadias and identify clinical factors that warrant screening. Materials and Methods: A retrospective review was conducted of patients with hypospadias treated at ...
Donlaporn Rungwilaicharoen, Ravit Ruangtrakool   +1 more
doaj  

Hypospadias [PDF]

Postgraduate Medical Journal, 1949
openaire   +4 more sources

Management of failed hypospadias: choosing the right method and achieving optimal results [PDF]

, 2018
Min Wu, Fang Chen, Hua Xie, Yiqing Lv, Yichen Huang, Yidong Liu, Weijing Ye   +6 more
openalex   +1 more source

Association between C677T variant of methylene tetrahydrofolate reductase and hypospadias risk in Algeria

The Turkish Journal of Pediatrics
Background. Hypospadias, a congenital condition characterized by the urethral opening being on the underside of the penis, has received limited attention in its association with the MTHFR C677T variant.
Rania Laouar, Djalila Chellat-Rezgoune, Meroua Horchi, Rayene Achou, Brahim Djoudi, Souhem Touabti, Yacine Benhizia, Karima Sifi   +7 more
doaj   +1 more source

Histopathological Comparison and Expression Analysis of COL1A1, COL3A1, and ELN in the Proximal and Distal Ventral Dartos of Patients With Hypospadias: Protocol for Prospective Case-Control Study

JMIR Research Protocols
BackgroundThe exact cause of penile curvature in hypospadias remains unknown. Resection of the dartos fascia has been observed to straighten the penis, indicating the involvement of the dartos fascia in the superficial chordee ...
Putu Angga Risky Raharja, Ponco Birowo, Lisnawati Rachmadi, Heri Wibowo, Aria Kekalih, Gede Wirya Kusuma Duarsa, Tariq Abbas, Irfan Wahyudi   +7 more
doaj   +1 more source