scholarly journals Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 ◽  
Vol 49 (4) ◽  
pp. 613-617 ◽  
Author(s):  
Xia Wang ◽  
Wu-Lin Charng ◽  
Chun-An Chen ◽  
Jill A Rosenfeld ◽  
Aisha Al Shamsi ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Germline Mutations ◽  
Skeletal Malformations

scholarly journals A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

2011 ◽  
Vol 19 (7) ◽  
pp. 820-826 ◽  
Author(s):  
Judith B A van de Meerakker ◽  
Klaartje van Engelen ◽  
Inge B Mathijssen ◽  
Ronald H Lekanne dit Deprez ◽  
Jan Lam ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Autosomal Dominant Condition ◽  
Chromosome 9Q ◽  
Dominant Condition ◽  
Atrial Rhythm

HOLT-ORAM SYNDROME: RARE CASE SERIES

2021 ◽  
pp. 46-47
Author(s):  
Mahendar Reddy Muskula ◽  
Roshin P ◽  
Ajay J ◽  
Sanjeev Chetty
Keyword(s):  
Congenital Heart Defects ◽  
Upper Limb ◽  
Rare Case ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Case Series ◽  
Rare Disorder ◽  
Autosomal Dominant Disorder ◽  
Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

scholarly journals Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia

2021 ◽  
Vol 8 (4) ◽  
pp. 615
Author(s):  
Balakrishna Teli ◽  
Sneha Biradar
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Case Reports ◽  
Malformation Syndrome ◽  
Skeletal Malformation ◽  
Skeletal Malformations ◽  
History Of ◽  
Current Report ◽  
Rule Out

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history of congenital heart disease (ventricular septal defect) and skeletal malformations which are typical of CHDSKM. Patient also had congenital hemiplegia which is rare in CHDSKMS. Patient also had lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other causes. Current report is one of the rare case reports of CHDSKMS, only few case reports have been published till now.

scholarly journals The expanding clinical phenotype of germline ABL1 ‐associated congenital heart defects and skeletal malformations syndrome

2020 ◽  
Vol 41 (10) ◽  
pp. 1738-1744 ◽  
Author(s):  
Chun‐An Chen ◽  
Emeline Crutcher ◽  
Harinder Gill ◽  
Tanya N. Nelson ◽  
Laurie A. Robak ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Clinical Phenotype ◽  
Heart Defects ◽  
Skeletal Malformations
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