Chapter 64 The Fetal Skeleton

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1

Achondrogenesis

Lethal autosomal recessive short-limb dwarfism marked by long-bone and trunk shortening, decreased echogenicity of the bones and spine, and "flipper-like" appendages

2

Achondroplasia

A defect in the development of the cartilage at the epiphyseal centers of the long bones producing short, square bones

3

Craniosynostosis

Early ossification of the calvarium with destruction of the sutures; hypertelorism frequently found in association; sonographically the fetal cranium may appear brachycephalic

4

Heterozygous achondroplasia

Short-limb dysplasia that manifests in the 2nd trimester of pregnancy; conversion abnormality of cartilage to bone affecting the epiphyseal growth centers; extremities are notably shortened at birth, with a normal trunk and frequent enlargement of the head

5

Homozygous achondroplasia

Short-limb dwarfism affecting fetuses of achondroplastic parents

6

Hypophosphatasia

Congenital condition characterized by decreased mineralization of the bones resulting in "ribbon-like" and bowed limbs, underossified cranium, and compression of the chest; early death often occurs

7

Osteogenesis imperfecta

Metabolic disorder affecting the fetal collagen system that leads to varying forms of bone disease; intrauterine bone fractures, shortened long bones, poorly mineralized calvaria, and compression of the chest found in type 2 forms

8

Polydactyly

Anomalies of the hands or feet in which there is an addition of a digit; may be found in association with certain skeletal dysplasias

9

Thanatophoric dysplasia

Lethal short-limb dwarfism characterized by a notable reduction in the length of the long bones, pear-shaped chest, soft tissue redundancy, and frequently cloverleaf skull deformity and ventriculomegaly