Understanding Normality Flashcards
What is TAR syndrome?
TAR Syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm, and a dramatically reduced platelet count. This syndrome may occur as a part of the 1q21.1 deletion syndrome
What is Proximal femoral focal deficiency?
PFFD is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.
It is commonly linked with the absence or shortening of a leg bone (fibular hemimelia) and the absence of a kneecap. Other linked birth defects include the dislocation or instability of the joint between the femur and the kneecap, a shortened tibia or fibula, and foot deformities.
Infant abnormalities can come under 2 categories.
What are they?
Malformations
-Manufacturing defect
Deformation
-Packaging problem
Give 4 examples of deformation infant abnormalities
Metatarsus adductus
Infantile postural scoliosis
Plagiocephaly
Congenital Torticolis
What is metatarsus adductus?
Metatarsus adductus, also known as metatarsus varus, is a common foot deformity noted at birth that causes the front half of the foot, or forefoot, to turn inward.
Metatarsus adductus may also be referred to as “flexible” (the foot can be straightened to a degree by hand) or “nonflexible” (the foot cannot be straightened by hand).
What is plagiocephaly?
Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. It is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for too long.
What is congenital torticolis?
Congenital muscular torticollis, also called twisted neck or wryneck, is a condition in which an infant holds his or her head tilted to one side and has difficulty turning the head. In congenital torticollis, the muscle that extends down the side of the neck - the sternocleidomastoid muscle – is tight and shortened.
Describe bent legs as we grow up
Bow leg (genu varum) is common under the age of 2 years
Knock-knee (genu valgum) is common between the age of 2 and 7
Most legs are straight by the teens
What is the MEAN walking age?
12 months
50% of children walk later than the mean
May be up to 20 months for some children
What may cause intoeing/ rotation in leg
Femoral anteversion
Int. tibial torsion
Metatarsus adductus
Is femoral anteversion normal?
How do you sort it?
Developmental norm
40 degrees at birth
1-2 degrees decrease pa
80% reach 10 degrees by 16 y
What is internal tibial torsion?
Increased thigh foot angle
90% + spontaneously resolve
What percentage of metatarsus adductus resolve within 1 y?
90%
Why do children have flexible flat feet at birth?
Very stretchy ligaments so sole of foot is flat
Get them to stand on toes or extend big toe to create arch to show this is normal
What are the 5 S’s you should remember when looking at these concerns from parents
Symptoms:
-Night pain, NWB
Symmetry:
-Lack of it
Stiffness
-of joints, paralysis, knees=hips
Syndromes
-Associated features
Systemic illness
-Pyrexia
