Aplasia cutis congenita

A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.

Short finger

Abnormally short finger associated with developmental hypoplasia.


合計: 1

                       


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PMID (PMCID)
10946361
 MIXED_SAMPLE Infant, Newborn
Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.
Amor DJ, Leventer RJ, Hayllar S, Bankier A.
Am J Med Genet. 2000;93(4):328-34.
One sib had aplasia cutis congenita of the scalp and transverse limb defects, and the other had short fingers and toes and also developed lymphedema of the right leg.