Developing supernumerary limbs is a rare congenital condition that only a few cases have been documented. Depending on the cause and developmental conditions, they may be single, multiple or complicated, and occur as a syndrome or associated with other anomalies. Polymelia is defined as the presence of extra limb(s) which have been reported in human, mouse, chicken, calf and lamb. It seems that...

Results The mutation detected was a defect of the common gamma chain of the interleukin 2 receptor (IL2Rg). Even though genetic counseling advised otherwise the patient’s mother got pregnant during follow-up and as no compatible donor was found we chose to wait birth and verify compatibility. Genetic evaluation of the newborn revealed the absence of the IL2Rg gene defect in blood cord and a mat...

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...

INTRODUCTION Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. METHODS A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all...

Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...

Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation. Due to the variability in underlying genetic defects, type, and location of the mutations and putative modifiers, clinical phenotypes could be moderate to severe, even absent in many individuals. Clinical presentation an...

The present work encounters the solution of the defect identification problem with the use of an evolutionary algorithm combined with a simplex method. In more details, a Matlab implementation of Genetic Algorithms is combined with a Simplex method in order to lead to the successful identification of the defect. The influence of the location and the orientation of the depressed ellipsoidal flaw...