[Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome].
We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.
Förster
W
W
Klinik und Poliklinik für Augenheilkunde der Westfälischen Wilhelms-Universität Münster.
Lenz
W
W
Busse
H
H
D000293:Adolescent; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000235:genetics; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics
D005819:Genetic Markers
Augensymptome bei einer Familie mit Pseudo-Ullrich-Turner-Syndrom.