Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia.
Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Diagnosis is usually readily made at birth or with antenatal ultrasound. It is frequently associated a number of non-skeletal abnormalities including:
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.
- genital malformations: may be present in ~66% of patients 6
- lower extremity bowing: femoral/tibial bowing
- reduced chest circumference: narrow fetal thorax
- hypoplastic scapulae
Plain films are all that is usually required to confirm the diagnosis.
- dislocated hip and knee joints
- bowing of femur and tibia
- hypoplastic fibula
- dysplastic acetabulum and iliac bones
History 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.
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