Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: A rare autosomal recessive syndrome

1981 ◽  
Vol 136 (3) ◽  
pp. 297-305 ◽  
Author(s):  
T. Goecke ◽  
R. Dopfer ◽  
R. Huenges ◽  
W. Conzelmann ◽  
A. Feller ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Postaxial Polydactyly

scholarly journals Early Diagnosis of Congenital Heart Disease Improves Outcome

2020 ◽  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Heart Diseases ◽  
Recessive Gene ◽  
Contributory Factor ◽  
Surgical Expertise

Congenital heart disease has an overall incidence of 8-10/1000 live births and is similar across the globe. The incidence may be higher in countries where consanguinity is high, suggesting an autosomal recessive gene as a risk factor. Advances in surgical expertise has improved outcome of simple and complex heart diseases. Early diagnosis and referral to centers caring for such babies is an important contributory factor to a better outcome. This review focuses on early diagnosis of congenital heart disease in neonates and children by Health Care Physicians (General and Family Physicians) and Pediatricians. Careful neonatal and pediatric cardiovascular examination, screening pulse oximetry on all newborns before hospital discharge and an early post natal follow up are important to diagnose CHD.

scholarly journals Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature

2016 ◽  
Vol 36 (2) ◽  
pp. 188-192
Author(s):  
Eva Gauchan ◽  
Prakash Sharma
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Ethnic Group ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Review Of Literature ◽  
Dental Abnormalities ◽  
Ellis Van Creveld Syndrome

Ellis van-Creveld syndrome is a rare autosomal recessive disorder characterized by acromesomelic dwarfism, postaxial polydactyly, oro-dental abnormalities and congenital heart disease. We are reporting three cases in two families of the same ethnic group from Western Nepal. Genetic testing should be done in this population in order to identify the mutation in the gene causing the syndrome.J Nepal Paediatr Soc 2016;36(2):188-192.

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

2006 ◽  
Vol 15 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Linde Goossens ◽  
Sandra Janssens ◽  
Valerie Meersschaut ◽  
Hilde Peeters ◽  
Hugo Devlieger ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Facial Features ◽  
Postaxial Polydactyly

Goldenhar's Syndrome

2002 ◽  
Vol 10 (3) ◽  
pp. 267-269 ◽  
Author(s):  
Özcan Özdemir ◽  
Kemal Arda ◽  
Hasan Turhan ◽  
Özgür Tosun
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Facial Asymmetry ◽  
Congenital Disease ◽  
Dominant Inheritance ◽  
Vertebral Anomaly ◽  
Postaxial Polydactyly ◽  
The Right

A 12-year-old male was admitted with postaxial polydactyly on the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry. Investigations confirmed the diagnosis of a congenital disease, Goldenhar's syndrome, with the rare associations of polydactyly and probable autosomal dominant inheritance.

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