Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).
We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo-auriculo-vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the "axial mesodermal dysplasia complex" (AMDC) which is supposed to arise from disturbed mesodermal cell migration during early blastogenesis. The present case was instructive to review the continuous spectrum of AMDC related anomalies.
Bergmann
Carsten
C
Institute of Human Genetics, Aachen University of Technology, Germany. cbergmann@ukaachen.de
Zerres
Klaus
K
Peschgens
Thomas
T
Senderek
Jan
J
Hörnchen
Helmut
H
Rudnik-Schöneborn
Sabine
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D001132:Arm / Q000002:abnormalities; D003241:Consanguinity; D004423:Ear / Q000002:abnormalities; D005146:Facial Asymmetry / Q000473:pathology*; D006053:Goldenhar Syndrome / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D008648:Mesoderm; D010641:Phenotype; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging