Report of a new case of axial mesodermal dysplasia complex.
We present a female child with phenotypical and clinical features of the axial mesodermal dysplasia complex. Typical manifestations of both the Goldenhar syndrome and the caudal regression syndrome are present in this complex. Only a few reports have described patients with this pattern of malformations localized in both the cranial and caudal regions. Our case represents a mild form of the complex and may contribute to a better delineation of this condition.
Bini
R
R
Department of Pediatrics, University of Florence, Italy.
Danti
D A
DA
Materassi
M
M
Pela
I
I
D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology*; D005260:Female; D006053:Goldenhar Syndrome / Q000473:pathology; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008648:Mesoderm; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome