Results 51 to 60 of about 1,067 (162)

A qualitative exploration of children's lives with rare diseases

open access: yesChild: Care, Health and Development, Volume 50, Issue 4, July 2024.
Abstract Background Rare diseases encompass a diverse group of debilitating and sometimes life‐threatening conditions that affect a small percentage of the population, posing a significant public health challenge. Despite their rarity, around 70% of these diseases afflict children, yet limited research has focused on their experiences. This study aimed
Niamh Buckle   +6 more
wiley   +1 more source

Oral manifestations and uncommon finding in children with Moebius syndrome: report of two cases

open access: yesRevista de Odontopediatria Latinoamericana
Moebius syndrome represents a rare congenital disorder characterized by non-progressive unilateral or bilateral paralysis of the facial and abducens nerves.
Lucas Fernando Oliveira Tomáz Ferraresso   +8 more
doaj   +1 more source

Organic Brain Dysfunction and Autism

open access: yesPediatric Neurology Briefs, 1991
A population-based neurobiological study of 35 children with autistic disorder (AD) and 17 with autistic-like conditions (ALC) is reported from the Department of Child and Adolescent Psychiatry, University of Goteborg, Sweden.
J Gordon Millichap
doaj   +1 more source

Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes

open access: yesInternational Journal of Language &Communication Disorders, Volume 59, Issue 3, Page 1152-1162, May/June 2024.
Abstract Background The Pediatric Eating Assessment Tool (PEDI‐EAT‐10) is a reliable and valid tool for rapid identification of dysphagia in patients aged 18 months to 18 years. Aims To translate and adapt the PEDI‐EAT‐10 into the Italian language and evaluate its validity and reliability.
Roberta Onesimo   +14 more
wiley   +1 more source

Moebius- Poland Syndrome: A case report

open access: yesIatreia, 2010
Moebius syndrome (OMIM 157900) is a congenital disorder related to paralysis of the VI and VII cranial nerves. Clinical findings include mainly facial nerve palsy and strabismus.
Mostapha Ahmad   +5 more
doaj  

Updated EUROCAT guidelines for classification of cases with congenital anomalies

open access: yesBirth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman   +7 more
wiley   +1 more source

Moebius syndrome and anaesthesia – case report

open access: yesZdravniški Vestnik, 2005
Background: Moebius syndrome is a congenital disorder involving the 6th and 7th cerebral nerves. It very often involves facial and limb anomalies, and the children with this disorder can be mentally retarded.
Darja Šervicl-Kuchler
doaj  

EMBRIOPATÍAS ASOCIADAS AL USO DE MISOPROSTOL

open access: yesRevista Chilena de Obstetricia y Ginecología, 2007
Se presenta un caso clínico de síndrome de Moebius y artrogriposis asociado al uso de misoprostol durante el primer trimestre de gestaciónWe present a case of Moebius syndrome and arthrogriposis associated to the use of misoprostol during the first ...
Andrea Osorío O   +4 more
doaj  

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

open access: yesEgyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky   +2 more
doaj   +1 more source

SYNDROME OF "STONE WALL FACE"- MOEBIUS SYNDROME IN THE SYSTEM OFCOMPREHENSIVE CARE

open access: yesListy klinicke logopedie, 2017
Möbius syndrome is a very rare congenital developmental disorder which primarily affects the muscles controlling facial expression and eye movements. The exact probability of occurance of this syndrome is unknown. Some experts suggest that the percentage
Jana Mironova Tabachová   +1 more
doaj   +1 more source

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