Aase syndromeQ74.3

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Aase-Smith syndrome; Aase syndrome

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

Probably autosomal dominant inherited rare syndrome with congenital insufficiency of erythropoiesis and triphalangia of the thumbs.

Occurrence/EpidemiologyThis section has been translated automatically.

About 20 cases have been published in the literature worldwide.

EtiopathogenesisThis section has been translated automatically.

Not known. No clustering of chromosome breaks.

Clinical featuresThis section has been translated automatically.

Triphalangia of the thumbs, normochrome-normocytic anemia, antimongoloid position of the lid, hemangiomas, pigmentation disorders of the skin (inconstant).

LiteratureThis section has been translated automatically.

  1. Aase JM, Smith DW (1969) Congenital anemia and triphalangeal thumbs. A new syndrome. J Pediatr 74: 471-474
  2. D'Avanzo M et al (2002) Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome. Haematologica 87: ECR34

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer