English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder

Haensel, J., Kohlschmidt, N., Pitz, S., Keilmann, A., Zenker, M., Ullmann, R., et al. (2009). Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. American Journal of Medical Genetics Part A, 149(10), 2236-2240. doi:10.1002/ajmg.a.32993.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D04-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D05-D
Genre: Journal Article
Alternative Title : Am J Med Genet A

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Haensel, Jennifer, Author
Kohlschmidt, Nicolai, Author
Pitz, Susanne, Author
Keilmann, Annerose, Author
Zenker, Martin, Author
Ullmann, Reinhard1, Author              
Haaf, Thomas2, Author              
Bartsch, Oliver, Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Content

show
hide
Free keywords: Barber-Say syndrome; Ablepharon macrostomia syndrome; Microblepharon; Array CGH
 Abstract: We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.

Details

show
hide
Language(s): eng - English
 Dates: 2009-10
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 149 (10) Sequence Number: - Start / End Page: 2236 - 2240 Identifier: ISSN: 1552-4825