Case Study on Tetraphocomelia

A newborn female presented with gross tetraphocomelia lacking features of an associated syndrome or relevant family or birth history that would cause the patient to be born with this anomaly. Tetraphocomelia is characterized by severe symmetrical limb reduction in utero. Several syndromes are associated with this finding: Robert’s syndrome, Thrombocytopenia with Absent Radius syndrome, Grebe Syndrome, Waardenber syndrome, and Holt-Oram syndrome. Furthermore, certain in utero exposures, such as thalidomide, alcohol and cocaine, are also associated with similar musculoskeletal deformations. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non-hereditary limb deficiency involving all four limb buds. This unique presentation of a rare congenital anomaly was possibly caused by amniotic bands or a vascular accident in utero, resulting in an isolated occurrence during the critical period of limb development, between fourth and the eighth week of gestation.

Author(s): Sessions W

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