Amelia
Updates to Article Attributes
Amelia refers to a skeletal dysplasia, characterized by complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies i.e. omphalocele and diaphragmatic hernias3.
Epidemiology
Amelia is a very rare congenital anomalies with incidence rate of 0.04-0.15 per 10000 live births1.
Pathology
The arrest in formation of primordial limb bud(s) during early phase (before 8th week of gestation) of embryogenesis, may be due to some mechanical, vascular insult or teratogenic exposure.
Association
Such type of limb anomalies are associated with4:
- thalidomide exposure
- Roberts syndrome
Radiographic features
Antenatal ultrasound
Antenatal ultrasound can diagnose it during later half of first trimester as gross absence of one or more limbs with associated other anomalies.
Prognosis and treatment
Prognosis depends up on the severity of other associated anomalies. More than 60% of newborns die early postnatally due to complicated amelia2.
Differential diagnosis
Imaging differential include2:
- sirenomelia (Mermaid syndrome)
- other limb reduction defects
-<p><strong>Amelia </strong>refers to a <a href="/articles/skeletal-dysplasia">skeletal dysplasia</a>, characterized by complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies i.e. omphalocele and diaphragmatic hernias<sup>3</sup>.</p><h4>Epidemiology</h4><p>Amelia is a very rare congenital anomalies with incidence rate of 0.04-0.15 per 10000 live births<sup>1</sup>. </p><h4>Pathology</h4><p>The arrest in formation of primordial limb bud(s) during early phase (before 8th week of gestation) of embryogenesis, may be due to some mechanical, vascular insult or teratogenic exposure. </p><h5>Association</h5><p>Such type of limb anomalies are associated with<sup>4</sup>:</p><ul>- +<p><strong>Amelia </strong>refers to a <a href="/articles/skeletal-dysplasia">skeletal dysplasia</a>, characterized by complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies i.e. omphalocele and diaphragmatic hernias <sup>3</sup>.</p><h4>Epidemiology</h4><p>Amelia is a very rare congenital anomalies with incidence rate of 0.04-0.15 per 10000 live births <sup>1</sup>. </p><h4>Pathology</h4><p>The arrest in formation of primordial limb bud(s) during early phase (before 8th week of gestation) of embryogenesis, may be due to some mechanical, vascular insult or teratogenic exposure. </p><h5>Association</h5><p>Such type of limb anomalies are associated with<sup> 4</sup>:</p><ul>
-</ul><h4>Radiographic features</h4><h5>Antenatal ultrasound</h5><p>Antenatal ultrasound can diagnose it during later half of first trimester as gross absence of one or more limbs with associated other anomalies.</p><h4>Prognosis and treatment</h4><p>Prognosis depends up on the severity of other associated anomalies. More than 60% of newborns die early postnatally due to complicated amelia<sup>2</sup>.</p><h4>Differential diagnosis</h4><p>Imaging differential include<sup>2</sup>:</p><ul>- +</ul><h4>Radiographic features</h4><h5>Antenatal ultrasound</h5><p>Antenatal ultrasound can diagnose it during later half of first trimester as gross absence of one or more limbs with associated other anomalies.</p><h4>Prognosis and treatment</h4><p>Prognosis depends up on the severity of other associated anomalies. More than 60% of newborns die early postnatally due to complicated amelia <sup>2</sup>.</p><h4>Differential diagnosis</h4><p>Imaging differential include <sup>2</sup>:</p><ul>
Tags changed:
- cases
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