Ch. 65 Flashcards
(43 cards)
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
