Down syndrome

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Short femur

An abnormal shortening of the femur.


Total: 1

                       


(per page)
PMID (PMCID)
18528244
 FEMALE Adult
Unilateral short femur--what does this mean? Report of 3 cases.
Oh KY, Frias AE Jr, Byrne JL, Kennedy AM.
Ultrasound Q. 2008;24(2):89-92.
We present 3 examples of prenatally diagnosed proximal focal femoral deficiency and briefly reviewed the differential diagnosis of short femur(s) in utero and associations such as ethnic variation, trisomy 21, and diabetic embryopathy.