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[Oculomandibular dyscrania. 5-year-old girl with congenital cataract and glaucoma].
Ophthalmologe
September 2004
Universitäts-Augenklinik, Homburg/Saar.
Leber's congenital amaurosis associated with high hyperopia in four sisters.
Ophthalmic Paediatr Genet
March 1989
University Eye Clinic, Geneva, Switzerland.
The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos.
View Article and Find Full Text PDFA female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated.
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