Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2004 Oct;13(4):265-267.

Ambras syndrome: report on two affected siblings with no prior family history

Valerica Belengeanu  1 , Kinga Rozsnyai, Cristina Gug, Mariana Bănăţeanu, Simona Farcaş, Alina Belengeanu
Affiliations
  • PMID: 15365467
Case Reports

Ambras syndrome: report on two affected siblings with no prior family history

Valerica Belengeanu et al. Clin Dysmorphol. 2004 Oct.

Abstract

We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.

PubMed Disclaimer

References

    1. Balducci R, Toscano V, Tedeschi B, Mangiantini A, Toscano R, Galasso C, et al. 1998. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22). Clin Genet 53:466–468.
    1. Baumeister FA 2000. Differentiation of Ambras syndrome from Hypertrichosis Universalis. Clin Genet 57:157–158.
    1. Baumeister FA 2002. Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet 109:77–78.
    1. Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero MC, Rodriguez-Asbun H 2003. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. Am J Med Genet 116A:278–283.
    1. Cianfarani S 2000. Ambras syndrome or hypertrichosis universalis, does it really matter? Reply to the letter by FAM Baumeister. Clin Genet 57:158.

Publication types

LinkOut - more resources