This item still needs to be validated !
Title: Apparently new "anophthalmia-plus" syndrome in sibs
Authors: Fryns, Jean-Pierre ×
Legius, Eric
Moerman, Philippe
Vandenberghe, K
Van den Berghe, Herman #
Issue Date: 1995
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:58 issue:2 pages:113-4
Abstract: The index patient of this report is a 17-week-gestation female fetus with bilateral anophthalmia, bilateral cleft lip/cleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4-year-old boy, is normal. The second child, a 2 1/2-year-old boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new "anophthalmia-plus" syndrome apparently inherited as autosomal-recessive.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science