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Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?

✍ Scribed by Toriello, Helga V. ;Graff, Russel G. ;Florentine, Michael F. ;Lacina, Samuel ;Moore, W. David ;Optiz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 471 KB
Volume: 29
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320290204

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✦ Synopsis

We report on a boy with congenital scalp and limb defects, consistent with a diagnosis of Adams-Oliver syndrome (aplasia cutis congenita with terminal transverse limb defects). An additional finding present in this child and in his mother was cutis marmorata telangiectatica congenita. Although this boy fits the diagnostic criteria for Adams-Oliver syndrome, his mother does not. We discuss whether this condition is highly variable, or heterogeneous.

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