Ch. 65 Flashcards
The fetal survey performed at 22 weeks’ gestation show shortened extremities and trunk with decreased echogenicity of the bones and spine, and flipper-like appendages. What skeletal dysplasia is present?
achodrogenesis
Early ossification of the calvarium with destruction of the sutures was seen in this fetus. Identify the skeletal dysplasia
craniosynostosis
A lethal congenital condition characterized by decreased mineralization of the bones resulting in ribbon-like and bowed limbs, under ossified cranium, and compression of the chest is representative of what skeletal dysplasia
congenital hypophosphatasia
A metabolic disorder affecting the fetal collagen system that leads to varying forms of bone disease: on ultrasound, multiple intrauterine bone fractures, shortened long bones, poorly mineralized calvaria, and compression of the chest was found in this anomaly. What skeletal dysplasia is present
osteogenesis imperfecta
Which condition shows anomalies of the hands or feet in which there is an addition of a digit? Hint: it may coexist in association with certain skeletal dysplasias
short rib polydactyly syndrome
A lethal short-limbed dwarfism characterized by a marked reduction in the length of the long bones, pear-shaped chest, soft-tissue redundancy, and frequent cloverleaf skull deformity and ventriculomegaly is known as what skeletal dysplasia
thanatophoric dysplasia
A defect in the development of the cartilage at the epipyseal centers of the long bones producing short, square bones
achondroplasia
The majority of the musculoskeletal system is formed from the primitive ______ arising from the mesenchymal cells that are the embryonic connective tissues
mesoderm
The vertebral column and ribs arise from the _______ and the limbs arise from the lateral plate _____
somites, mesoderm
Initially the limbs have a paddle shape with a ridge of thickened _______ known as the apical ectodermal ridge, at the apex of each bud
ectoderm
The fingers are distinctly evident by day 49, although they are still webbed, and by the _____ week of development, the fingers are longer
8th
Development of the feet and toes is essentially complete by the ______ week, although the soles of the feet are still turned inward at this time
9th
The term used to describe abnormal growth and density of cartilage and bone is skeletal
dysplasia
Type 1 _______ is characterized by short, curved femurs and flat vertebral bodies
thanatophoric dysplasia
Type 2 is characterized by straight, ______ femurs, flat vertebral bodies and a ________ skull
cloverleaf
The most common nonlethal skeletal dysplasia is
achondroplasia
Achondrogenesis is caused by cartilage abnormalities that result in abnormal _______ formation and _______
bone, hypo mineralization
Osteogensis imperfecta is a rare disorder of collagen production leading to _____ bones, manifestations in the teeth, skin and ligaments; and blue _______
brittle, sclera
A condition that presents with diffuse hypomineralization of the bone caused by an alkaline phosphatase deficiency is congenital
hypophosphatasia
Camptomelic (best bone) dysplasia is a group of lethal skeletal dysplasia that are characterized by ______ of long bones
bowing
Short-rib polydactyly syndrome is a lethal skeletal dysplasia characterized by short ribs, short _____ and polydactyly
limbs
Ellis-van creveld syndrome may present with a ____ thorax, causing pulmonary hypoplasia, and heart defects, the most common of which is the ________
narrow, atrial deptal defect
An anomaly in which there is fusion of the lower extremities is
sirenomelia/caudal regression syndrome
For the VACTERL association to be considered, _____ features must be identified; a ______ umbilical artery may also be identified
3, single
Amputation defects may be identified as total or partial absence and may be associated with ________ syndrome
amniotic band
Clubfoot, also known as _______, describes deformities of the foot and ankle
talipes
_______ is characterized by a prominent heel and convex sole
rocker bottom foot
Shortening of entire extremity
micromelia
When does limb development begin
26th or 27th day after conception for upper limbs, 2 days later for lower limbs
What occurs secondary to skeletal dysplasia and is described as disproportionately short stature
dwarfism
Shortening of the proximal bone segment (humerus/femur)
rhizomelia
Shortening of the middle segments (radius/ulna/tibia/fibula)
mesomelia
Congenital absence of 1 or more limbs
amelia
Split hand
lobster claw deformity
What is another name for Ellis-Van creveld syndrome
chondroectodermal dysplasia
Group of anomalies that may occur together
VACTERL association
Abnormal joint contractures, facial abnormalities, IUGR/poly, pulmonary hypoplasia, similar to Trisomy 18
pena-shokeir syndrome
Rare, micromelia, talipes, cleft palate, micrognathia, scoliosis, short stature, hand/earlobe abnormalities, not lethal
diastrophic dysplasia
Bent bones, lethal group of dysplasias, short limbs, bowing of long bones, lethal
camptomelic dysplasia
Rare, phocomelia, facial anomalies, pseudothalidomide syndrome, poor outcome
roberts syndrome
Asphyxiating thoracic dysplasia, narrow thorax, poor outcome
jeunes syndrome
Severe extremity contractures, muscle/connective tissue disorders
arthogryposis multiplex congenita
Webbing across joints, multiple contractures, x-linked inheritance
lethal multiple pterygium syndrome
