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skos:definition |
JABL: Symmetrical phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym SC-pseudothalidomide syndrome), flexion contractures of the joints, facial anomalies, micrognathia, scanty blond hair, cloudy corneae, delayed growth, and occasional mental retardation. SC phocomelia and Roberts syndrome are considered by some as the same entity termed Roberts-SC phocomelia syndrome. The syndrome was first observed in a family with surname beginning with S and another with surname beginning with C.,JABL: A syndrome of symmetric phocomelia-like limb defects similar to those seen in thalidomide embryopathy (hence the synonym Roberts pseudothalidomide syndrome), craniofacial abnormalities, growth retardation, and mental deficiency with various degrees of severity. Roberts and SC phocomelia syndromes are considered by some the same entity termed Roberts-SC phocomelia syndrome.
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