seal limb anomaly
Phocomelia is an extremely rare congenital skeletal disorder that characteristically affects the limbs. It can affect either the upper limbs or lower limbs or both. Phocomelia is also a descriptive term to describe the characteristic limb anomalies occurring with its associated conditions.
Pathology
It characteristically manifests as a deficiency or shortening of the proximal to mid portions of the limbs.
Associations
Phocomelia can occur sporadically. However, recognized associations include:
- thalidomide embryopathy: most common cause of historically
- Roberts syndrome
- TAR syndrome
- Grebe syndrome
- Holt-Oram syndrome
- DK phocomelia syndrome/von Voss-Cherstvoy syndrome
- Schinzel-phocomelia syndrome
Radiographic features
Antenatal ultrasound
Classically with upper limb involvement, the hands are present, but with variable deficiency and or foreshortening of the arm and/or forearm. The hands may be of normal or abnormal morphology.
History and etymology
Derived from the Greek phoco meaning "seal" and melia meaning "limb".
Differential diagnosis
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu phocomelia:
