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New case of axial mesodermal dysplasia spectrum

✍ Scribed by Saraiva, Jorge M.

Book ID: 101449057
Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 110 KB
Volume: 55
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320550329

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✦ Synopsis

I read with interest the case reports by Stewart et al. [19931 and Martinez-Frias and Gomar 119941 concerning axial mesodermal dysplasia spectrum. Shortly afterwards I had the opportunity to see a 2-year-old boy with manifestations of the oculo-auriculo-vertebral complex and caudal "regression" anomaly.

He was born at the 39th week of pregnancy. The birth weight was 2,280 g (3rd centile). He has facial asymmetry with left hypoplasia, bilateral preauricular skin tags and epibulbar dermoids (Fig. l), surgically corrected anal atresia, and moderate flexion deformities of the knees with otherwise normal lower limbs. He has

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