[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy].
An 8-year-old boy showed multiple cardiovascular and urinogenital anomalies, neurological problems as well as endocrinological abnormalities even shortly after birth. The patient had ophthalmological peculiarities, such as eyelid cleft configuration, tapetoretinal dystrophy, retinal visual atrophy, early childhood converging strabismus with varying angle relationships, nystagmus, light sensitivity and substantial visual deficits. Finally a Kabuki syndrome could be confirmed by human genetic investigations (8q22-23 triplication).
Kramer
S
S
Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes (UKS), Kirrbergerstrasse, 66421, Homburg/Saar, Deutschland. sebastian.kramer@uniklinikum-saarland.de
Seitz
B
B
Käsmann-Kellner
B
B
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome