limb development begins the ____ day after conception with lower extremity development begins ___ days later

T/F: pt whose fetus is at risk for a skeletal dysplasia is commonly referred to a maternal-fetal center for genetic counseling and a targeted ultrasound

select all that apply: most prenatally diagnosed skeletal dysplasias occur in association with

shortening of the proximal bone segment (humerus/femur)

shortening of the middle segments (radius/ulna , tibia, fibula)

shortening of the entire extremity

most common LETHAL skeletal dysplasia

occurs as a result of premature craniosynostosis and may be associated with agenesis of the corpus callosum

most common non-lethal skeletal dysplasia, result of decreased endochondral bone formation producing short, squat bones

which factor increases risk for achondroplasia

______ is a rare, lethal skeletal dysplasia caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization

which type of achondrogenesis is less severe but more common, result of spontaneous mutation

rare disorder of collagen production leading to brittle bones, manifests in teeth, skin, ligaments, and blue sclera

which type of osteogenesis imperfecta is considered the most severe and lethal

condition that presents with diffuse hypomineralization of the bone caused by an alkaline phosphatase deficiency

select all that apply: brain structures are easily seen due to poorly ossified cranium

rare disorder characterized by micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, earlobe deformities, and hand abnormalities

group of lethal skeletal dysplasias that are characterized by bowing of the long bones

infants that survive the neonatal period with camptomelic dysplasia usually die within the first year suffering from

rare, autosomal recessive disorder characterized by phocomelia, facial anomalies, and a poor prognosis ; aka pseudothalidomide syndrome

the vertebral column and ribs are derived from the

the limbs are derived of the

the roof and the base of the skull are derived of

the facial bones are derived of the

achondroplasia may not be evident on ultrasound until after ____ weeks

select all that apply: osteogenesis imperfecta manifests in the ____

T/F: osteogenesis imperfecta is noted to be linked to mutations in COL1A1 and COL1A2 genes

T/F: stillbirths and infant mortality are common with Robert's syndrome, survivors suffer from growth restriction and severe mental retardation

lethal disorder characterized by short ribs, short limbs, and polydactyly

disorder characterized by a very narrow thorax also known as asphyxiating thoracic dysplasia

rare disorder that has an increased risk in the Amish community, also known as chondroectodermal dysplasia

survivors of Ellis-van Creveld syndrome typically exhibit

rare disorder that is a range of malformations of the caudal end of the neural tub ; has been associated with maternal diabetes

extreme form of caudal regression syndrome characterized by fusion of the lower extremities ; higher prevalence in males

T/F: vascular hypo perfusion is thought to be a causative factor for sirenomelia and a single umbilical artery is commonly seen

severe contractures of the extremities because of abnormal innovation and disorder of muscles and connective tissues

disorder characterized by webbing across the joints and multiple contractures

disorder characterized by abnormal joint contractures, facial abnormalities, polyhydramnios, IUGR, and pulmonary hypoplasia