FAQ

Cantu syndrome

Known as: Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome, Hypertrichotic osteochondrodysplasia 
 

Topic mentions per year

Topic mentions per year

1998-2017
012319982017

Related topics

Related topics

13 relations
Autosomal dominant inheritanceBicuspid aortic valveGingival HypertrophyHYPERTRICHOSIS, CONGENITAL GENERALIZED
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Broader (2)

HypertrichosisOsteochondrodysplasias

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Cantu syndrome
Osteoporosis
Autosomal dominant inheritance
Lymphedema
Patent ductus arteriosus
Pericardial effusion

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory… (More)
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2015
2015
Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.
BACKGROUND Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease… (More)
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2014
2014
Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and… (More)
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2013
2013
Hypotension Due to Kir6.1 Gain‐of‐Function in Vascular Smooth Muscle
BACKGROUND KATP channels, assembled from pore-forming (Kir6.1 or Kir6.2) and regulatory (SUR1 or SUR2) subunits, link metabolism… (More)
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2011
2011
Cantu syndrome and lymphoedema.
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema… (More)
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2011
2011
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.
BACKGROUND Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone… (More)
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2011
2011
Cantu syndrome - A case report
Cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, macrocephaly… (More)
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2010
2010
Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome.
We report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial… (More)
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2005
2005
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.
We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM… (More)
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Review
1998
Review
1998
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.
Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. Four children have… (More)
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