Clinical and Genetic Diagnosis of Multiple Osteochondromas in Rwandan Patients

Multiple Osteochondromas (MO) or hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder mainly characterized by multiple osteochondromas predominantly located at the growth plates of long bones. MO is a genetically heterogeneous disorder and results from mutations in EXT1 and EXT2 genes located on chromosome 8q23-q24 and 11p11-p12. We hereby report a case of a 23-year-old girl who presented characteristic clinical and radiological features of MO. The same clinical signs were observed in her relatives. The p.Arg340Cys mutation in the EXT1 gene was found in the proband confirming the clinical diagnosis. A surgical management was carried out in all affected bones which consisted of excision of the bigger and pain full osteochondromas. The patient was informed of her problem and genetic counseling was offered to the family's members

An Unusual Case of Double Aneuploidy of Down Syndrome Associated with Triple x Syndrome: 48;xxx;21

Down syndrome is the most common chromosomal abnormality in humans with an estimated incidence of one case in 770 live births. However; the occurrence of double aneuploidy involving autosome and or sex chromosome is a very rare phenomenon in lives born and the majority of reported cases are presented in form of spontaneous abortions. Here; we are reporting a case of a Rwandan patient with combination of trisomy 21 and triple X syndrome. The proband was 8-month-old female with typical features of Down syndrome. In additional to Down syndrome features; the child presented with minor features of triple X syndrome characterized by hypotonia and seizures