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Congenital absence of uvula

Known as: Agenesis of uvula, Missing uvula, Uvula aplasia 
Lack of the uvula. [pmid:19125428]
National Institutes of Health

Related topics

Related topics

4 relations
Congenital absenceMesomelia-synostoses syndromeRobinow syndrome, autosomal recessiveUvula of palate

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Hairy Polyp in the Nasopharynx - A Case Report
Background: Hairy polyp or dermoid is a benign bigerminal congenital germ cell tumour. It is a rare condition in the nasopharynx… 
2020
2020
Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndrome
Van der Woude syndrome (VWS) is the most common single gene mutation causing cleft lip/palate, responsible for approximately 2… 
2016
2016
Uvula Bee Sting: A Case Report
There have been several reports of Hymenoptera sting around the world, but only a few have been reported being stung at the… 
Review
2009
Review
2009
Absent uvula and thrombocytopenia in an African infant with job's syndrome: Case report and review of literature
Job’s syndrome, a subset of the Hyper-immunoglobulin E (IgE) recurrent Infection Syndrome (HIES), is a rare primary… 
2008
2008
Uvula-Schwellung und -Elongation nach Intubationsnarkose
ZusammenfassungLokalisierte pathologische Veränderungen der Uvula sind seltene, aber potenziell lebensgefährliche Komplikationen… 
2005
2005
A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
A dysmorphic newborn with 45,x,der(1)inv(1)(p13;qter)t(y;1)(pter-->q11;p13),-Y de novo karyotype: Y/autosome translocations are… 
Highly Cited
1992
Highly Cited
1992
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.
Human craniofacial malformations are a class of common congenital anomalies in which the etiology is heterogeneous and often… 
1992
1992
Linkage studies of x-linked cleft palate and ankyloglossia in a British Columbia native kindred
Human craniofacial malformations are a class of common congenital anomalies. Their etiology is heterogeneous and often poorly… 
1978
1978
Terminal deletion of (1)(q42) and its phenotypical manifestations
SummaryA 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid… 
1967
1967
[Sudden death in an infant caused by aspiration of a malformed uvula].
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