Results 21 to 30 of about 16,006 (225)
Treatment timing and multidisciplinary approach in Apert syndrome [PDF]
, 2015 Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO +6 more
core +2 more sources
RELACIÓN ENTRE PSEUDOESTRABISMO Y SUS PREDITORES EN POBLACIÓN INFANTIL
Vision Pan-America, 2017 Introduction: The diagnosis of pseudostrabismus is very common in ophthalmology; especially pseudotropia. There is some dispute about the parameters to determine the diagnosis especially hypertelorism.
Mercedes Zambrano Paco
doaj +1 more source
Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report
Journal of Oral Research and Review, 2022 Hypertelorism-microtia-clefting (HMC) syndrome is a very rare autosomal recessive disorder. HMC syndrome is malformation of orofacial region characterized by hypertelorism, microtia, and cleft lip and palate.
Supreet Shirolkar +5 more
doaj +1 more source
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. [PDF]
, 2014 IntroductionAndersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in ...
Bieganowska, Katarzyna +11 more
core +2 more sources
Brazilian Journal of Otorhinolaryngology, 2011 Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs.
Melissa Zattoni Antoneli +4 more
doaj +1 more source
Jurnal Neuroanestesi Indonesia, 2021 Kraniosinostosis merupakan kasus yang didagnosis di tahun pertama kehidupan dan dapat membutuhkan pembedahan pada usia muda. Kraniosinostosis merupakan salah satu bagian dari sindrom hipertelorisme dengan angka kejadian sebesar 20%.
Arief Cahyadi +3 more
doaj +1 more source
Management of functional neurological disorder. [PDF]
, 2020 Functional neurological disorder (FND) is a common cause of persistent and disabling neurological symptoms. These symptoms are varied and include abnormal control of movement, episodes of altered awareness resembling epileptic seizures and abnormal ...
Coebergh, JA +7 more
core +1 more source
Do you know this syndrome? Leopard syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A ...
Flávio Heleno da Silva Queiroz Cançado +5 more
doaj +2 more sources
Wolf–Hirschhorn syndrome – a case report
Pediatria i Medycyna Rodzinna, 2017 Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p).
Halyna Bulak, Dzwenyslava Kopanska
doaj +1 more source
The Turkish Journal of Pediatrics, 2020 Background. Chronic sinusitis and its complications are common in patients with cystic fibrosis. Mucoceles are one of these complications and can have life-threatening consequences if left untreated. Case.
Orhan Tunç +4 more
doaj +1 more source