Results 71 to 80 of about 10,448 (224)

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Ertl surgery on the short fibula stump after war injury

Medicinski Glasnik
Aim To propose a new technique of Ertl-type surgery for significantly shortened and valgus deviated fibula stump. Methods We present the case of a 26-year-old patient who underwent reamputation surgery to replace a significantly shortened fibula ...
Viktor Shevchuk, Yurii Bezsmertnyi, Olexander Bezsmertnyi, Olexander Branitsky   +3 more
doaj   +1 more source

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome [PDF]

, 2014
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems.
Fenwick, A.L. (Aimée), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Lester, K.J. (Kathryn), Lord, H. (Helen), Mathijssen, I.M.J. (Irene), Ouweland, A.M.W. (Ans) van den, Rankin, J. (Julia), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew)   +9 more
core   +1 more source

First Identification of a Heterozygous RNU4‐2 and RNU4‐1 Deletion Associated With Fetal Urogenital and Anorectal Malformations

Prenatal Diagnosis, EarlyView.
Mario Abaji, Bénédicte Gerard, Laurent Nasca, Radia Fritih, Julie Blanc, Pierre Castel, Claude D'Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource‐Limited Setting

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Congenital syngnathia, the rare fusion of the maxilla and mandible, poses significant feeding and respiratory challenges. Its management is complicated by rarity and potential syndromic associations. We present a 1‐week‐old female neonate who presented with left jaw deviation, respiratory distress (SpO2 69%, tachypnea), and fever.
Asteway M. Haile, Biruk T. Mengistie, Tinsae Y. Tamiru, Chernet T. Mengistie, Dawit G. Abebe, Bezawit M. Haile   +5 more
wiley   +1 more source

A Novel Approach to Study Cranial Shape in Children with Normal and Sagittal Synostosis: An Application of Geometric Morphometrics

Neurologia Medico-Chirurgica
To provide appropriate treatment, neurosurgeons and pediatricians must understand the chronological changes of the cranial morphology in normal children and the differences between normal and sagittal synostosis children. However, this issue has remained
Tadashi MIYAGAWA, Akira YAMAURA
doaj   +1 more source

Pediatric Chronic Monteggia Fractures: Insights From a Comprehensive Review

Pediatric Discovery, Volume 3, Issue 4, December 2025.
ABSTRACT Monteggia fractures represent relatively infrequent injuries in the pediatric population, accounting for approximately 2% of all forearm fractures. However, the rate of missed diagnoses ranges from 30% to 50%, leading to the development of chronic Monteggia fractures in children.
Gengze Li, Yuan Zhang
wiley   +1 more source

Early treatment of congenital syngnathia. A case report

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Congenital syngnathia is a rare malformation. The synechia or synostosis of the maxilla and the mandible may be partial or complete and also be associated with other malformations.
Eduardo Alfredo Duro, Stella Maris Benitez, Albano del Cristo Barreto Paternina   +2 more
doaj   +1 more source

Treatment of pressure gun fractures and release in the wild of a caracara (Caracara plancus)

Veterinary Record Case Reports, Volume 13, Issue 4, December 2025.
Abstract This report aims to describe the treatment progression of a free‐living southern crested caracara (Caracara plancus plancus) with gunshot‐related fractures. Radiographic examination revealed a comminuted fracture in the mid‐diaphysis of the humerus with displaced fragments, a comminuted fracture of the proximal third of the radius shaft, and ...
Guilherme Rech Cassanego, Sheila Canevese Rahal, Bruno Oliani de Risso, Anita Marchionatti Pigatto, Maria Jaqueline Mamprim   +4 more
wiley   +1 more source

CONGENITAL METACARPAL SYNOSTOSIS (REVIEW)

Travmatologiâ i Ortopediâ Rossii, 2016
The article is devoted to actual problem of children orthopedics - congenital metacarpal synostosis. The analysis of literature was performed, the different variant this rare congenital abnormality and method of treatment were diagnosed.
A. V. Zaletina, S. I. Golyana
doaj   +1 more source