Interrupted arch or extreme coarctation? [PDF]
Carrel T.
europepmc +1 more source
Multiple cardiac malformations in a calf
This paper describes the morphopathological aspects of a case of multiple cardiac malformations in a calf. A two‐day‐old male calf of undefined breed was born with an ectopic heart, presenting with dyspnoea and in lateral recumbency. The owner had repositioned the exposed heart beneath the adjacent skin, which was suclosed, without additional incisions
LA Soares +7 more
wiley +1 more source
[ Giant asymptomatic anterolateral diaphragmatic hernia in an adult: report of a rare case] [PDF]
Espana MI +3 more
europepmc +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Congenital myelomeningocele containing two hemicords with placodes in a patient with complex split spinal cord malformation: illustrative case. [PDF]
Nestler U +6 more
europepmc +1 more source
Criteria for early diagnosis of third molar agenesis: a retrospective radiographic study. [PDF]
Dumas M +4 more
europepmc +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Cranial nerves involvement in craniosynostosis: a systematic review. [PDF]
Manara R +8 more
europepmc +1 more source
Association Between Hypomineralisation of Second Primary Molars and Tooth Agenesis
ABSTRACT Background Hypomineralisation of second primary molars (HSPM) is an enamel defect with a multifactorial and potentially genetic aetiology. While the association between enamel defects and dental anomalies is a relatively recent area of investigation, it has not yet been explored specifically in cases of HSPM.
Débora Juliana de Araújo Lopes +3 more
wiley +1 more source
Congenital Abnormalities Causing Hematocolpos: A Pictorial Essay. [PDF]
Dorthu L, Danthine D.
europepmc +1 more source

