Congenital Deformity Flashcards
What is neuralation and when does it occur?
The formation of the nervous system in the embryo which occurs at day 25.
Which embryonic layer is the nervous system formed from?
Ectoderm
What embryonic layer does the notochord come from and what does it form?
Notochord comes from the mesoderm and forms the nucleus pulposus of the spinal cord.
The neural tube forms…
Spinal cord
Somites form…
Bony vertebral bodies and fibrous annulus fibrosus.
When does limb development start?
Limb formation starts at 4 weeks and limbs rotate out at 8 weeks.
Summary of limb development.
What is the Heuter Volkman principle?
Heuter Volkman principle is an orthopedic rule regarding bone growth which states that compression forces inhibit growth and tensile forces stimulate growth.
Neural tube defect at the cranial end can lead to what?
Encephalocele
What is Fanconi anemia?
Fanconi anemia is a rare disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells. This is the most common inherited form of aplastic anemia.
What is radial club hand?
Radial club hand. Radial club hand is a congenital (present at birth) hand anomaly where the radius bone in the arm is missing or underdeveloped, causing the hand to be bent towards the body (radially deviated). It is also known as radial ray deficiency or anomaly.
What is Fibular hemimelia?
Fibular hemimelia is a birth defect where part or all of the fibular bone is missing, as well as associated limb length discrepancy, foot deformities, and knee deformities. Fibular hemimelia (FH) is a very rare disorder, occurring in only 1 in 40,000 births.
Growth plate histology
Apert syndrome
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Which gene is implication in Apert syndrome?
FGF2 gene
Defects of spine formation
What is ulnar dimelia?
Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.
Which gene is implicated in ulnar dimelia?
SHH gene
(Sonic hedgehog)
What can a hemi-hypertrophy be a sign of?
Wilm’s tumours.
Hemi-hypertrophy can present on one side of the body or in one muscle.
What is amniotic band syndrome?
Amniotic band syndrome (ABS) is a rare birth defect in which bands of tissue inside the sac of fluid that surrounds a baby in the womb tangle around the baby’s body causing injury. This happens when there is a rupture in the inside sac (amnion).
Achondroplasia
Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It’s the most common type of disproportionate dwarfism.
Hereditary multiple exostoses
Hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas.
Cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels).
What is club foot deformity?
In clubfoot, the tendons on the inside of the leg are shortened, the bones have an unusual shape, and the Achilles tendon is tightened. If left untreated, the person may appear to walk on their ankles or the sides of their feet.
Developmental dysplasia of the hip (DDH)
Developmental dysplasia of the hip (DDH) is a condition where the “ball and socket” joint of the hip does not properly form in babies and young children. It’s sometimes called congenital hip dislocation or hip dysplasia.
Galeazzi Test
What deformity is shown in this image?
Apert Syndrome
What deformity is shown in this image?
Hereditary multiple exotoses
What deformity is shown in this image?
Developmental dysplasia of the hip
What deformity is shown in this image?
Fibula hemimelia
What deformity is shown in this image?
Club foot deformity
What deformity is shown in this image?
Ulnar dimelia
What deformity is shown in this image?
Radial club hand
