Purpose or Case Report: Poland Syndrome is a classic differential consideration for a unilateral hyperlucent hemithorax on chest radiograph due to pectoralis aplasia or hypoplasia. Additional associations include brachysyndactyly, simian crease, dextrocardia, and liver/biliary abnormalities. Isolated pectoral hypoplasia or aplasia without limb involvement is generally cosmetic and can be corrected with plastic surgery, but Mobius syndrome should be ruled out due to its association. Children with Mobius syndrome can exhibit an expressionless affect, excessive drooling, and/or eye paralysis due to cranial nerve deficiencies. This educational exhibit discusses the pediatric radiologist's role in the imaging approach to these supposedly separate diseases which may represent a continuum of one pathology.
Methods & Materials: The epidemiological, clinical, genetic, and imaging findings of both Poland syndrome and Mobius syndrome are described. A discussion of the appropriate protocol required to aid in the diagnosis of Mobius syndrome is included. Differential diagnoses are explored. Radiologic examples of additional associations such as morning glory syndrome and Pierre-Robin syndrome are also depicted.
Results: Poland syndrome can occur sporadically, but some familial associations have been observed. It is more common in males and more commonly affects the right side of the body. Mobius does not appear to exhibit a gender predominance. Like Poland syndrome, the disease commonly occurs sporadically, though associated genetic mutations have been characterized. Imaging findings include cranial nerve hypoplasia or aplasia. Due to the association between these diseases, the name Poland-Mobius syndrome is sometimes uses. In the child presenting with Poland syndrome, MRI of the brain with high resolution imaging of the cranial nerves is indicated.
Conclusions: Poland syndrome and Mobius syndrome, though both rare, can occur in tandem. The pediatric radiologist should be aware that the diagnosis of either disease should prompt assessment for the other. High resolution imaging of the cranial nerves is indicated when Poland syndrome is diagnosed.