Pathology
Poor mineralization of the calvarium and long bones, multiple fractures, and beaded ribs on US are classic for this disorder.
What is osteogenesis imperfecta type 2?
This is the most common genetic etiology for achondroplasia.
What is a gain of function mutation in FGR3?
The sonographic finding of long bone measurements < 3SD below the mean is highly of suggestive of this diagnosis.
The word thanatophoric in Greek is translated to mean this.
What is death bearing?
This is the most reliable imaging modality for the final diagnosis of bone dysplasias.
What is postnatal radiography?
This is the most common non-lethal skeletal dysplasia diagnosed in the third trimester.
What is achondroplasia?
These are the three most common single gene mutations in fetal skeletal dysplasias.
What are FGR3, COL1A1, and COL1A2?
This is the chest circumference to abdominal circumference ratio below which predicts lethality in skeletal dysplasias?
What is < 0.6?
Frontal bossing, a depressed nasal bridge, and trident hand configuration on ultrasound is most consistent with this diagnosis.
What is achondroplasia?
This MSK malformation, which develops as early as 6 weeks of gestation, is a major (and common) cause of congenital scoliosis and kyphoscoliosis.
What are hemivertabrae?
This is the most common subtype of skeletal dysplasia with a positive family history.
What is osteogenesis imperfecta?
This syndrome, compatible with long term survival, is autosomal recessive in its inheritance pattern and is seen as frequently as every 5/1000 births in the old order Amish population of Pennsylvania.
What is Ellis-van Crevald Syndrome?
This is the femur length to abdominal circumference ratio threshold strongly associated with lethality.
What is < 0.16?
This skeletal dysplasia is characterized by severe micromelia, a narrow thorax, and either bowed or straight long bones.
What is thanatophoric dysplasia?
This skeletal dysplasia is associated with a small bell-shaped thorax, short ribs, and is associated with pulmonary hypoplasia.
This is the most common lethal skeletal dysplasia presenting with early hydrops.
What is achondrogenesis?
This syndrome is associated with ambiguous genitalia, hypoplastic scapulae, acute femoral angulation, and SOX9 mutations.
What is campomelic dysplasia?
A femur to foot length less than 1.0 in the second trimester suggests this type of limb shortening.
This syndrome can be diagnosed prenatally by exome sequencing, and is characterized by syndactyly, midface hypoplasia, and craniosynostosis.
What is Apert Syndrome?
This rare, lethal skeletal dysplasia is characterized by boomerang-shaped femora and humeri
What is boomerang dysplasia?
This rare inherited metabolic bone disorder is characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. With one mutation, your condition is benign. With two, it is lethal.
What is hypophosphatasia?
The syndrome associated with a hitch-hiker's thumb and cauliflower ear, and more commonly seen in people of Finnish ancestry, is caused by a mutation in this transporter gene.
What is DTDST (diastrophic dysplasia sulfate transporter gene)?
This developmental malformation consists of missing digits, a deep median cleft, and fusion of the remaining digits.
What is Ectrodactyly?
This syndrome presents with craniosynostosis, midface hypoplasia, and proptosis, and can be diagnosed by exome sequencing.
What is Crouzon Syndrome?
What is club foot?