Results 41 to 50 of about 9,359 (213)
, 2011 Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear.
Babu, SG +3 more
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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Focal Myositis in paediatric age. [PDF]
, 2015 BACKGROUND: Focal Myositis is a rare pseudotumor of unknown aetiology that is often difficult to diagnose and treat. Typically afflicting people in adulthood, it has occasionally been reported also among children.
Alaggio, Rita, Corradin, M, Gigante, C
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A rare case of Beckwith-Wiedemann syndrome with encephalocele
The Pan African Medical Journal, 2020 A premature female child was delivered with polyhydramnios, an unusually large placenta and long umbilical cord. The clinical examination revealed that there is macrosomia, macroglossia and encephalocele. The patient also had complains of hypoglycemia on
Rakesh Khatana, Anamika Khatana
doaj +1 more source
Giant venous malformation of the tongue with macroglossia: A hidden menace
Clinical Dermatology Review, 2021 Venous malformations (VMs) are congenital slow flow vascular malformations that are usually present at birth. They grow proportionate with the age and do not regress with time differentiating them from hemangiomas.
Reena Kumari Sharma +3 more
doaj +1 more source
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Beckwith Wiedemann Syndrome : presentation of a case report [PDF]
, 2008 Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease of low prevalence. However, it presents a high prevalence within the genetic pathologies of overgrowth.
Fernández Toro, María de los Ángeles +3 more
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Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]
, 2019 The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara +16 more
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A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar +4 more
doaj +1 more source
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source