When a mother is a carrier of CFND, there is a 50% chance of her passing down the X-chromosome containing the mutated EFNB1 gene to her offspring, regardless if the child is a boy or girl. If the father is a carrier there is a 100% chance of him passing down his X-chromosome with the EFNB1 mutation to a daughter, and 0% chance of him passing it down to a son. Diagnosis
The diagnosis CFND is established only after the presence of a mutation in the EFNB1 gene has been determined. Physical manifestations are not necessarily part of the diagnostic criteria, but can help guide in the right direction. This is due to the large heterogeneity between patients regarding phenotypic expression.20% of the patients that present with CFND-like characteristics do not display a mutation in the EFNB1 gene. The group of patients diagnosed with CFND is thus often overestimated. However, it is important to distinguish this population from CFND for research purposes. On the other hand, especially in males, it is possible that someone is a carrier of the EFNB1 gene mutation yet does not present with any physical manifestations. Screening for the presence of an EFNB1 mutation is thus the most reliable method to establish the diagnosis CFND.Genetic counseling or prenatal screening may be advised if there is a reason to suspect the presence of an EFNB1 gene mutation. Prenatal screening may be done by performing an ultrasound, where can be searched specifically for hypertelorism or a bifid nasal tip.
In human anatomy, the thigh is the area between the hip (pelvis) and the knee. Anatomically, it is part of the lower limb.The single bone in the thigh is called the femur. This bone is very thick and strong (due to the high proportion of bone tissue), and forms a ball and socket joint at the hip, and a modified hinge joint at the knee. Structure
Bones
The femur is the only bone in the thigh and serves as an attachment site for all muscles in the thigh. The head of the femur articulates with the acetabulum in the pelvic bone forming the hip joint, while the distal part of the femur articulates with the tibia and patella forming the knee. By most measures, the femur is the strongest bone in the body. The femur is also the longest bone in the body.The femur is categorised as a long bone and comprises a diaphysis, the shaft (or body) and two epiphysis or extremities that articulate with adjacent bones in the hip and knee. Muscular compartments
In cross-section, the thigh is divided up into three separate compartments, divided by fascia, each containing muscles. These compartments use the femur as an axis and are separated by tough connective tissue membranes (or septa). Each of these compartments has its own blood and nerve supply, and contains a different group of muscles.