Results 41 to 50 of about 1,659 (187)
Hypospadias and Testicular Agenesis in Two German Shepherd Puppies [PDF]
Iranian Journal of Veterinary Surgery, 2016 Case Description- Hypospadias and testicular agenesis were described in this clinical report in two German shepherd puppies presented with a history of lethargy, anorexia, dysuria, urinary incontinence, severe urine scald dermatitis and pyoderma in the ...
Mahdieh Rezaei +5 more
doaj
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 35-58, January 2026.ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring +4 more
wiley +1 more source
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity [PDF]
, 2003 Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 ...
Aslan Halil +4 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang +4 more
wiley +1 more source
Aphallia: A Rare Congenital Anomaly in a Low-Resource Setting
International Medical Case Reports Journal, 2023 Awet Ghebreberhan Mehretab,1,* Nahom Daniel Berhe,2,* Emnet Tekeste Fekadu3 1Department of Surgery, Adi Quala Hospital, Adi Quala, Eritrea; 2Department of Internal Medicine, Mendefera Zonal Referral Hospital, Mendefera, Eritrea; 3Department of ...
Mehretab AG, Berhe ND, Fekadu ET
doaj
Vaginoplasty with a Pudendal-Thigh Flap in Intersexuals [PDF]
, 2008 We treated 2 different types of intersexual patients who underwent a vaginoplasty with the pudendal-thigh flap. One was a female with testicular feminization syndrome for whom we reconstructed the total vagina with a pudendal-thigh flap, and the other ...
Hasegawa, Kenjiro +5 more
core +1 more source
Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source