Abnormal MSK PT 2 Flashcards
4 kinds of skeletal dysplasia disorders? (order from most lethal to nonlethal)
Thanatophoric dysplasia
Achondrogenesis
Osteogenesis imperfecta
Achondroplasia
What is the most common lethal skeletal dysplasia?
Thanatophoric dysplasia
what is the most common nonlethal skeletal dysplasia?
Achondroplasia
Achondroplasia?
- what will be seen?
- Most common non-lethal
- Autosomal dominant
seen:
- Rhizomelic shortening (may not be recognized until 3rd trimester
- Mild limb bowing
- Exaggerated lumber lordosis
- Enlarged head (macrocephaly)
What are the main characteristics of Achondroplasia? (5)
- Bones of hand and feet are short (trident hand)
- Frontal bossing
- Mid face hypoplasia
- Flattened nasal bridge
- Broad mandible
What is Homozygous achondroplasia?
- Early shortening of femurs (3rd percentile at 14-16 weeks)
- Lethal in the 1st two years of life
trident hand?
bones of hand and feet are short
what is achondroplasia associated with? (5)
- trident hand
- frontal bossing
- mild face hypoplasia
- flattened nasal bridge
- broad mandible
what is homozygous achondrioplasia?
- early shortening of femurs
- letal in 1st 2 years of life
Heterozygous achondroplasia affects?
- affected later in pregnancy
- compatible with a normal life and intellectual development
- shortening of probimal limbs
- short fingers and toes
heterozygous achondrioplasia presents as?
- large head with prominent forehead
- small midface with flattened nasal bridge
- spinal kyphosis or lorgosis
- varus or valgus deformitites
- ear infections
- sleep apnea
- hydrocephalus
What is Hypochondroplasia?
Autosomal dominant
Resembles achondroplasia but features are milder
- Sparing of the head
- Lack of tibial bowing
What is Hypochondroplasia?
Autosomal dominant
Resembles achondroplasia but features are milder
- Sparing of the head
- Lack of tibial bowing
what is Thanatophoric dwarfism characterized by?
- Extremely short limbs
- Folds of extra (redundant) skin on the arms and legs
- Narrow chest
- Short ribs
- Underdeveloped lungs
- Enlarged head with a large forehead
- Prominent, wide-spaced eyes.
what is Thanatophoric dwarfism characterized by?
- Extremely short limbs
- Folds of extra (redundant) skin on the arms and legs
- Narrow chest
- Short ribs
- Underdeveloped lungs
- Enlarged head with a large forehead
- Prominent, wide-spaced eyes.
thanatophoric dysplasia, type I and type II?
Type I - thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly)
Type II - thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull
what occurs when Infants have thanatophoric dysplasia?
usually stillborn or die shortly after birth from respiratory failure
What is the most common lethal skeletal dysplasia?
Thanatophoric Dysplasia
what is Thanatophoric Dysplasia?
Most common lethal skeletal dysplasia Severe micromelia Severe thoracic dysplasia Polyhydramnios Cloverleaf skull deformity
what is Platyspondyly?
- a radiographic feature and refers to flattened vertebral bodies throughout the axial skeleton
- significant narrowing of the chest and prominent abdomen
- most common spinal abnormality in skeletal dysplasias
what is Achondrogenesis?
- 2nd most common lethal skeletal dysplasia
- most severe degree of limb shortening
Achondrogenesis type I?
Is inherited autosomal recessive
more severe form
characterized by:
- Inadequate ossification of the skull, spine, and pelvis
- Extensive shortening of tubular bones
- Multiple rib fractures
Achondrogenesis type II?
- autosomal doninant
-characterized by various degrees of calcification of the pelvis, skull, and spine
Without rib fractures
- Most type II cases are sporadic (new autosomal dominant mutations).
Achondrogenesis sono features?
- Short femur length measurement: often well below the 5thpercentile
- The femur length (FL) to biparietal diameter (BPD) is taken as a useful measurement
- Trident hand and 4 fingers appearing separated and similar in length
- Separation of 1stand 2nd, 3rdand 4thfingers
- Protruding forehead:frontal bossing
two conditions most commonly associated with hypomineralization of the spine?
achondrogenesis type I and hypophosphatasia
Hypomineralized Bone?
- subject to fractures and typically appears less echogenic than normal.
- Hypomineralization of the spine is characterized by decreased echogenicity and attenuation of the vertebrae and enhanced visualization of the spinal cord
Hypomineralization of the skull is characterized by?
- decreased echogenicity and attenuation of the cranium (skull appears less echogenic or isoechoic to the falx echo).
- With normal bone ossification, shadowing is normally seen behind the fetal head.
Hypomineralization of the skull is characterized by?
- decreased echogenicity and attenuation of the cranium (skull appears less echogenic or isoechoic to the falx echo).
- With normal bone ossification, shadowing is normally seen behind the fetal head.
Osteogenesis imperfecta?
- congenital bone disorder characterized by brittle bones that are prone tofracture
- born with defectiveconnective tissue or without the ability to make it, usually because of a deficiency oftype I collagen
Osteogenesis imperfecta- type 1?
Blue sclera
Hyper laxity of ligaments and skin
Hearing impairment
No prenatal deformities
Osteogenesis imperfecta- type 2?
Lethal No ossification of the skull Beaded ribs Shortened and crumpled long bones Multiple fractures Thoraxis short but not narrow
most common anomaly associated with fetal fractures?
Osteogenesis imperfecta
Caudal Regression Syndrome?
- A disorder that impairs the development of the lower (caudal) half of the body
- Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
Caudal Regression Syndrome?
- A disorder that impairs the development of the lower (caudal) half of the body
- Affected areas can include the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.
what is frog leg position and what is it seen in?
- legs are bent with the knees pointing out to the side and the feet tucked underneath the hips
- associated with caudal regression syndrome
what is calcaneovalgus?
- feet turned outward or upward
Sirenomelia?
Sirenomelia, alternatively known asMermaid Syndrome, is a very rarecongenital deformityin which the legs are fused together
sirenomelia prognosis? and associated with?
Usually fatal within a day or two of birth because of complications associated with abnormalkidney andurinary bladderdevelopment and function
what does sirenomelia result from?
- failure of normal vascular supply from lower aorta in utero
Amniotic Band Syndrome?
group of congenital birth defects believed to be caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero
Camptomelic Dysplasia?
- AKA bent bone
- group of lethal skeletal dysplasias characterized by bowing of long bones
- occurs in 1 per 150,000 births
- Lethal anomaly
- Most infants die in neonatal period because of pulmonary hypoplasia
- Infants surviving neonatal period usually die within first year of life.
Camptomelic Dysplasia sono features?
Bowing of long bones with lower extremities affected most severely Small thorax Hypoplastic fibulas Hypoplastic scapulae Hypertelorism Cleft palate Micrognathia Talipes Hydrocephalus Polyhydramnios Hydronephrosis
Roberts Syndrome?
Rare condition characterized by phocomelia and facial anomalies
Autosomal-recessive disorder
Also known as pseudothalidomide syndrome
May present with associated chromosomal abnormalities
Roberts Syndrome prognosis?
Prognosis poor
Stillbirth and infant mortality common
Survivors are growth-restricted and have severe mental retardation
roberts syndrome sono findings?
Phocomelia, with upper extremities more severely affected
Bilateral cleft lip and palate
Hypertelorism
Microcephaly
Cardiovascular, renal, and gastrointestinal anomalies may be identified
Ellis–van Creveld Syndrome?
Is also known as chondroectodermal dysplasia
Prevalence is 1 in 60,000 births.
Increased frequency in Amish community estimated to be up to 1 in 5000 births
Is inherited in autosomal-recessive pattern
Ellis–van Creveld Syndrome?
Is also known as chondroectodermal dysplasia
Prevalence is 1 in 60,000 births.
Increased frequency in Amish community estimated to be up to 1 in 5000 births
Is inherited in autosomal-recessive pattern
Ellis–van Creveld Syndrome presentation?
Narrow thorax, causing pulmonary hypoplasia
Heart defects, the most common of which is atrial septal defect (ASD)
Ellis–van Creveld Syndrome sono features?
Limb shortening
Narrow thorax
Polydactyly
Heart defects (50%)
Radial Ray Anomaly?
deficiency of the radius with or without accompanyingdeficiencyof the thumb bones
Polydactyly?
Refers to hand or foot with more than five digits.
Most commonly associated with Tri-13 and Meckel-Gruber Syndrome (encephalocele, polydactyly and renal cystic dysplasia)
Clinodactyly?
Refers to inward curvature of the fifth digit of the hand and is due to hypolasia or the mid phalanx of the 5th digit.
Tri-21: 61%
Persistently clenched hand with overlapping fingers common finding with?
Tri- 18
Trident Hand?
Atrident hand- the hands are short with stubby fingers, witha separation between the middle and ring fingers.
Associated with variouschondrodysplasiasincludingachondroplasia.
Syndactyly
congenital fusion of two or more digits
triplpidy tend to affect?
3rd and 4th digits of hand
