Axial mesodermal dysplasia spectrum.
We report on a 4-month-old boy with manifestations of both the oculo-auriculovertebral spectrum and the caudal regression sequence. He has preauricular appendages, thoracic and lumbar hemivertebrae, anomalies of the ribs, dextrocardia, sacral "dysplasia," dislocated hips, bilateral talipes equinovarus, imperforate anus, recto-vesical fistula, malformed scrotum, and undescended testes. As suggested by Russell et al. [1981], who reported a patient with similar anomalies, the spectrum of anomalies probably is due to a generalized alteration in mesodermal cell migration during the primitive streak period. The term "axial mesodermal dysplasia spectrum" best describes the widespread anomalies in the cranial and caudal regions.
Stewart
F J
FJ
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Nevin
N C
NC
Brown
S
S
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001006:Anus, Imperforate / Q000473:pathology; D005260:Female; D006618:Hip Dislocation, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D008648:Mesoderm; D013902:Radiography, Thoracic; D012272:Ribs / Q000002:abnormalities