Abstract
Article: Prenatal Sonographic Detection of Skeletal Dysplasias: A Case of Multiple Pterygium Syndrome, or Escobar Syndrome
Author: Amy Bildner, RDMS
Category: OB/GYN
Credit: 1.0 SDMS CME Credit
Objectives: After studying the article entitled “Prenatal Sonographic Detection of Skeletal Dysplasias: A Case of Multiple Pterygium Syndrome, or Escobar Syndrome,” you will be able to:
Determine the differences between lethal and nonlethal forms of the pterygium syndrome
Describe the genetic mutations involved in multiple pterygium syndrome
Determine other abnormalities commonly associated with skeletal dysplasias
In a broad sense, skeletal dysplasias may be thought of as A large, heterogeneous group of abnormalities in solid organ systems Disorders in the formation and growth of bone Complications resulting from spina bifida A constellation of findings associated with anencephaly
Sonography is ideally suited to the detection of skeletal dysplasias because of The sensitivity of color Doppler imaging to vasculogenesis High-resolution imaging of solid organs near bony landmarks Skeletal ossification early in fetal development Uniform screening nationwide of all pregnancies
The reported rate of false-positive prenatal sonography studies in the diagnosis of skeletal dysplasias is 0.07% 0.70% 31% 85%
When nuchal translucency is associated with skeletal dysplasias, the rate of lethality is 10% 31% 68% 85%
The estimated prevalence of skeletal dysplasia per 10,000 births is 1.0 2.0 2.4 7.0
The forms of pterygium syndrome include A lethal popliteal pterygium syndrome and a nonlethal (Escobar) form A lethal popliteal pterygium syndrome and a lethal multiple pterygium syndrome as well as a nonlethal (Escobar) multiple pterygium syndrome A lethal and a nonlethal popliteal pterygium syndrome and a nonlethal (Escobar) multiple pterygium syndrome A lethal popliteal pterygium syndrome and a lethal multiple pterygium syndrome, as well as a nonlethal popliteal pterygium syndrome and a nonlethal (Escobar) multiple pterygium syndrome
The reported incidence of the nonlethal type of popliteal pterygium syndrome is 1 in 10,000 1 in 75,000 1 in 100,000 1 in 300,000
The gamma protein component (subunit) of the acetylcholine receptor protein is essential for Development of the spinal cord Signaling between muscle and nerve cells Proper development of conjunctival tissue Bone growth
Lethal types of pterygium syndrome are a result of CHRNG gene mutations That enhance production of the gamma protein subunit That allow production of only some gamma protein subunits That prevent production of the gamma protein subunit That produce an impaired gamma protein subunit
A sonographic finding that typically is common to both the nonlethal multiple (Escobar) and the nonlethal popliteal pterygium syndrome is Syndactyly Spina bifica occulta Spinal fusion Talipes
Footnotes