We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotyp
β¦ LIBER β¦
Newborn with Anophthalmia and Features of Fryns Syndrome
β Scribed by Diane M. Pierson; Antonio Subtil; Eugenio Taboada; Merlin G. Butler
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 703 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1093-5266
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Anophthalmia-microphthalmia-oblique clef
β
Warburg, M.; Jensen, H.; Prause, J. U.; Bolund, S.; Skovby, F.; Miranda, M. J.
π
Article
π
1997
π
John Wiley and Sons
π
English
β 52 KB
π 2 views
A newborn with anophthalmia and pulmonar
β
Lin Li; Jueyang Wei
π
Article
π
2006
π
John Wiley and Sons
π
English
β 116 KB
π 1 views
Fryns syndrome with osteochondrodysplasi
β
Anne M. Slavotinek; H. Robinson; M.A. Steele
π
Article
π
2005
π
John Wiley and Sons
π
English
β 105 KB
Apparently new βanophthalmia-plusβ syndr
β
Fryns, Jean-Pierre ;Legius, Eric ;Moerman, Philippe ;Vandenberghe, Kamiel ;Van d
π
Article
π
1995
π
John Wiley and Sons
π
English
β 166 KB
π 2 views
The index patient of this report is a 17-weekgestation female fetus with bilateral anophthalmia, bilateral cleft liplcleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable
A newborn with the cat-eye syndrome
β
J. P. Fryns; E. Eggermont; H. Verresen; H. Berghe
π
Article
π
1972
π
Springer
π
English
β 316 KB
Terminal deletion of chromosome 5p in a
β
Stathopulu, E. ;Ogilvie, C. Mackie ;Flinter, F.A.
π
Article
π
2003
π
John Wiley and Sons
π
English
β 76 KB
π 2 views