The axial mesodermal dysplasia spectrum.
Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a number of other individuals have been reported with Goldenhar or related syndromes who have malformations in the caudal region or, conversely, who have the caudal regression syndrome and possess cranial anomalies. Possible explanations for the commonality of malformations seen in these syndromes are presented and discussed. It is suggested that the term, "axial mesodermal dysplasia spectrum" be used in patients manifesting this overlap to emphasize the importance of searching for the other malformations seen in this spectrum of anomalies.
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000150:complications; D003286:Contracture / Q000150:complications; D005145:Face; D006053:Goldenhar Syndrome / Q000150:complications*; D006615:Hip; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D007717:Knee; D007866:Leg / Q000002:abnormalities; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D012447:Sacrum / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities