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  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.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am J Med Genet A

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 Urheber:
Haensel, Jennifer, Autor
Kohlschmidt, Nicolai, Autor
Pitz, Susanne, Autor
Keilmann, Annerose, Autor
Zenker, Martin, Autor
Ullmann, Reinhard1, Autor           
Haaf, Thomas2, Autor           
Bartsch, Oliver, Autor
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              

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Schlagwörter: Barber-Say syndrome; Ablepharon macrostomia syndrome; Microblepharon; Array CGH
 Zusammenfassung: 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.

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Sprache(n): eng - English
 Datum: 2009-10
 Publikationsstatus: Erschienen
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 Ort, Verlag, Ausgabe: -
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Titel: American Journal of Medical Genetics Part A
  Alternativer Titel : Am J Med Genet A
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 149 (10) Artikelnummer: - Start- / Endseite: 2236 - 2240 Identifikator: ISSN: 1552-4825