Upgrade to remove ads
Terms in this set (53)
What is skeletal dysplasia?
It describes the abnormal growth and density of cartilage and bone.
What does dwarfism refer to?
A disproportionately short stature which occurs secondary to a skeletal dysplasia.
What is the protocol for evaluating for skeletal dysplasia?
Assess limb shortening, assess bone contour, estimate degree of ossification, evaluate thoracic circumference and shape, survey for coexistent hand and foot anomalies, evaluate the face and profile, and survey for other associated anomalies.
What is rhizomelia?
The shortening of the proximal bone segment (humerus/femur)
What is mesomelia?
Shortening of the middle segments (tib/fib)
What is micromelia?
Shortening of the entire extremity
What is thanatophoric dysplasia
The most common lethal skeletal dysplasia that is divided into 2 categories: Type 1- short and curved femurs and flat vertebral bodies; Type 2-short and straight femurs, flat vertebral bodies, and cloverleaf skull.
What are the sonographic findings of thanatophoric dysplasia?
Severe micromelia, flat vertebral bodies, narrow/short thorax, frontal bossing, cloverleaf skull, protuberant abdomen, hypertolerism, etc.
What is achondroplasia?
Most common non-lethal skeletal dysplasia resulting in decreased endochondral bone formation producing short bones.
What are the sonographic findings of achondroplasia?
Rhizomelia, macrocephaly, frontal bossing, depressed nasal bridge, mild ventriculomegaly, and trident hands
What is achondrogensis?
A rare and lethal form of skeletal dysplasia caused by cartilage abnormalities that results in abnormal bone formation and hypomineralization. There are 2 typess: Type 1-Parenti-Fraccaro Type 2-Langer Saldino (80% of all cases)
What are the sonographic findings of achondrogenesis?
Severe micromelia, decreased or absent ossification of the spine, macrocephaly, short trunk, short ribs/thorax, micrognathia, polyhydramnios, and possible hydrops
What is osteogenesis imperfecta?
A disorder of collagen production leading to brittle bones consisting of 4 classifications.
What are the sonographic findings of osteogensis imperfecta?
Generalized hypomineralization, multiple fractures, narowing thorax, and micromelia
What is congenital hypophosphatasia?
A condition that presents with diffuse hypomineralization of the bone caused by an alkaline phosphatase deficiency
What are the sonographic findings of congenital hypophosphatasia?
Diffuse hypomineralization of the bones, moderate to severe micromelia, bowed or fractured or missing extremities, poorly ossified cranium, and small thoracic cavity
What is diastrophic dysplasia (distorted dysplasia)?
A very rare disorder cahracterized by micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, earlobe deformities, and hand abnormalities
What are the sonographic findings of diastrophic dysplasia?
Micromelia, fixed abducted thumb, scoliosis, talipes, micrognathia, cleft palate
What is the average adult height of diastrophic dysplasia?
Less than 4 feet with orthopedic abnormalities causing significant handicaps.
What is Camptomelic dysplasia?
A group of lethal skeletal dysplasias characterized by bowing of the long bones
What are the sonographic findings of camptomelic dysplasia?
Bowing of long bones, Small thorax, hypoplastic fibulas, hypertelorism, cleft palate, micrognathia, talipes, ventriculomegaly, hydronephrosis
What is Robert's syndrome?
A rare syndrome characterized by phocomelia and facial anomalies
What is phocomelia?
very short or absent long bones and flipper-like appearance of hand and sometimes feet
What are the sonographic findings of Robert's syndrome?
Phocomelia, bilateral cleft lip/palate, microcephaly, hypertelorism, and associated cardiovascular, renal, and gastrointestinal anomalies
What is short rib polydactyly syndrome?
A lethal syndrome characterized by a narrowing thorax and polydactyly divided into 4 categories
What are the sonographic findings of short rib polydactyly syndrome?
Narrow thorax with short ribs, polydactyly, micromelia, midline facial cleft, and possible CNS anomalies
What is Jeune's syndrome?
AKA Asphyxiating thoracic dysplasia characterized by a narrowing thorax resulting in hypoplastic lungs
What are the sonographic findings of Jeune's syndrome?
Narrowing thorax, rhizomelia, renal dysplasia, and polydactyly
What is Ellis-Van Creveld syndrome?
AKA chondroectodermal dysplasia, cartilage disorder that is more prevalent in the Amish community
What are the sonographic findings of Ellis-Van Creveld syndrome?
Limb shortening, Polydactyly, heart defects (50%), and possible narrow thorax
What is Caudal regression syndrome?
AKA Sirenomelia, is a fusion of the lower extremeties that is assocated with diabetes mellitus
What are the sonographic findings of caudal regression syndrome?
Sacral agensis, talipes, abnormal lumbar vertebrae, pelvic abnormalities, and contractures
What are postural anomalies?
A decrease in fetal movement caused by oligohydramnios, multiple gestations, congenital uterine anomalies, abnormality of the fetal nerves, connective tissues, or muscluature
What is arthrogryposis multiplex congenita?
Severe contractures of the extremities because of abnoraml innervation and disorders of the muscles and connective tissues
What are the sonographic findings of arthrogryposis multiplex congenita?
Rigid extremities, flexed arms, hyperextension of the knees, clenched hands, talipes, poly or oligo, CNS anomalies, and possible facial and/or renal anomalies
What is lethal multiple pterygium syndrome?
Webbing across the joints and multiple contractures
What are the sonographic findings of lethal multiple pterygium syndrome?
limb contractures, webbing across joints, cystic hygroma and possible micrognathia, hydrops and poly
What is Pena-Shokeir syndrome characterized by?
Abnormal joint contractures, facial abnormalities, poly, IUGR, and pulmonary hypoplasia
What is amelia?
Congenital absence of one or more extremities
What is snydactyly?
What is a split hand referred to as?
Lobster claw hand
What are overlapping digits called?
What are radial ray defects?
hypoplasia or aplasia of the radius and tumb
What is talipes?
AKA club foot, are deformites of the foot and ankle affecting males predominantly and mostly unilateral
What characterizes a rocker-bottom foot?
A prominent heel and convex sole
What is acromelia?
Shortening of the distal segments (hands/feet)
What is Preaxial?
located on the radial or thumb side or the tibial side
what is postaxial?
located on the ulnar/fibular side or little finger side
What is scoliosis?
Laterally curved or bent spine
What is kyophosis?
abnormal posterior curvature of the thoracic spine (hunchback)
What is lordosis?
abnormal anterior curvature of the lumbar spine (swayback or saddle back)
What are hemivertbrae?
partially formed vertebral body
What is Platyspondyly?
Flattening of the vertebral body
THIS SET IS OFTEN IN FOLDERS WITH...
First trimester Review
MCH Pregnancy 2
Ch 62: Fetal Abdomen
Chapter 53 Quizlet
YOU MIGHT ALSO LIKE...
Chapter 65 - Fetal Skeleton
Ob 3 week 12 The fetal skeleton
OB Chapter 64 Test & Matching
Thompson Ch. 65 Test: Fetal Skeleton
OTHER SETS BY THIS CREATOR
OB study questions
Fetal Urogenital System
OTHER QUIZLET SETS
RESEARCH quiz 2
Health Promotion of the School-aged Child
MRA 500 Herb Review Questions #2