Campomelic dwarfism
Updates to Article Attributes
Camptomelic dwarfism,also known as camptomalic dysplasia, is a rare form of skeletal dysplasia.
Epidemiology
Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Clinical presentation
Diagnosis is usually readily made at birth or with antenatal ultrasound. It is frequently associated a number of non-skeletal abnormalities including:
Pathology
Genetics
It is thought to result from a mutation in a gene located in chromosome 17 which encodes for a transcription factor named Sox9 4. There may be an autosomal recessive inheritance 6.
Associations
- genital malformations: may be present in ~66% of patients 6
Radiographic features
Antenatal ultrasound
Findings include:
- lower extremity bowing: femoral/tibial bowing
- reduced chest circumference: narrow fetal thorax
- hypoplastic scapulae
Plain film
Plain films are all that is usually required to confirm the diagnosis.
- chest
- hypoplastic scapulae
- narrow chest - narrow fetal thorax / bell shaped thorax
- vertebral hypoplasia
- limbs
- dislocated hip and knee joints
- bowing of femur
&and tibia - hypoplastic fibula
- pelvis
- dysplastic acetabulum and iliac bones
Historical contextHistory and etymology
It is derived from the Greek "campo" (bent) and "melia" (limb).
Treatment and prognosis
Camptomelic dysplasia is not compatible with long term survival and 97% of patients die within first year due to respiratory insufficiency.
-<li>bowing of femur & tibia</li>- +<li>bowing of femur and tibia</li>
-</ul><h4>Historical context</h4><p>It is derived from the Greek "campo" (bent) and "melia" (limb).</p><h4>Treatment and prognosis</h4><p>Camptomelic dysplasia is not compatible with long term survival and 97% of patients die within first year due to respiratory insufficiency.</p>- +</ul><h4>History and etymology</h4><p>It is derived from the Greek "campo" (bent) and "melia" (limb).</p><h4>Treatment and prognosis</h4><p>Camptomelic dysplasia is not compatible with long term survival and 97% of patients die within first year due to respiratory insufficiency.</p>
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