Results 11 to 20 of about 97,105 (315)
Unilateral cerebellar hypoplasia
Indian Journal of Radiology and Imaging, 2009 Unilateral cerebellar hypoplasia is a relatively rare malformation. We report the case of a 7-year-old boy who presented with a history of a fall, which was followed by cerebellar signs.
JD Vagh +3 more
doaj +2 more sources
Radiology Case Reports, 2016 Glenoid hypoplasia, also known as glenoid dysplasia and dysplasia of the scapular neck, is a failure of ossification of the posteroinferior two-thirds of the glenoid. Once thought to be a rare condition, more recent studies have shown that the incidence of glenoid hypoplasia ranges from 18% to 35%.
Baca, Mauricio J. +2 more
openaire +4 more sources
Neonatal hip dysplasia: Differental diagnosis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2010 Introduction. Hip dysplasia is the elementary form of the developmental dysplasia of the hip (DDH). The diagnosis may be made by the ultrasound examination (types II a-, II b). Objective.
Vukašinović Zoran +3 more
doaj +1 more source
Pattern and prevalence of dental anomalies among a paediatric population in Lagos, Nigeria
Nigerian Postgraduate Medical Journal, 2022 Background: Dental anomalies are craniofacial abnormalities in the size, structure or number of the teeth. This study was conducted to assess the prevalence of dental anomalies among children aged 0–16 years attending the Paediatric Dental Clinic at the ...
Olubukola O Olatosi +5 more
doaj +1 more source
Frontiers in Pediatrics, 2019 We report a case of a baby, who, after pregnancy complicated by maternal Addison's disease and Hashimoto's thyroiditis and natural delivery, unexpectedly presented a cardiorespiratory collapse and died 1 hour after birth without responding to prolonged ...
Anna M. Lavezzi +8 more
doaj +1 more source
Unilateral pulmonary vein atresia: Difficulties of radiological diagnosis [PDF]
Digital DiagnosticsPulmonary vein atresia is a rare congenital abnormality that could manifest in isolation or in association with other congenital abnormalities in the cardiovascular system such as pulmonary vein hypoplasia.
Veronika V. Zharikova +3 more
doaj +1 more source
Long-Term Sequalae of Undiagnosed Intrusion of a Primary Tooth
Dentistry Journal, 2022 Aims: This case demonstrates the adverse sequelae that can follow a traumatic dental injury at a young age. It also highlights the importance of taking a full history and undertaking a thorough exam, independent of the information in the referral.
Thikrayat Bani-Hani +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia [PDF]
, 2007 Objective Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R).
Hindmarsh, PC +9 more
core +1 more source
Modified technique for uncommon coarctation of the aorta with arch hypoplasia
Annals of Pediatric Cardiology, 2018 A true presubclavian coarctation of the aorta with arch hypoplasia without major intracardiac anomaly can result in a surgical dilemma. Theoretically, one can avoid repair through median sternotomy using selective cerebral perfusion and its sequelae ...
Brijesh Parayaru Kottayil +4 more
doaj +1 more source