Literature DB >> 3354597

Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.

C P Koiffmann1, A Wajntal, B J Huyke, R M Castro.   

Abstract

We describe a man with manifestations of the Adams-Oliver syndrome: congenital scalp defect with hypoplastic fingers and toes. The patient has normal first-cousin parents: among seven sibs, three sisters and two brothers are normal; two brothers born with the same scalp lesion died as a consequence of bleeding from this abnormal area. There is no evidence of other affected relatives. The family of our patient is suggestive of autosomal recessive inheritance of this disorder with phenotypic manifestations identical to those present in the autosomal dominant form. Dermatoglyphic findings are discussed.

Entities:  

Mesh:

Year:  1988        PMID: 3354597     DOI: 10.1002/ajmg.1320290203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Dilemmas and challenges in the management of a neonate with Adams-Oliver syndrome with infected giant aplasia cutis lesion and exsanguination: a case-based update.

Authors:  Suhas Udayakumaran; Jimmy Mathew; Dilip Panikar
Journal:  Childs Nerv Syst       Date:  2012-12-29       Impact factor: 1.475

Review 2.  Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.

Authors:  E Jaeggi; C Kind; R Morger
Journal:  Eur J Pediatr       Date:  1990-05       Impact factor: 3.183

3.  Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects.

Authors:  Ola Bakry; Abdalla Attia; Eman Nabil El Shafey
Journal:  J Dermatol Case Rep       Date:  2012-03-27
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.