[Congenital malformations in the area of the eye and their significance in the diagnosis of major syndromes and in genetic counseling].
In 102 out of 127 patients who had congenital malformations of the eye and the orbit these malformations were part of a syndrome. Only 11 patients had a single ocular anomaly without associated malformations. Of the remaining 116 patients, 69.3% had associated anomalies of the nervous system, 48% had associated malformations of the connective tissue, 25.6% had anomalies of the skin and its appendages, 23.6% had malformations of the visceral organs, especially the urinary and intestinal tracts, and 22% had cardiovascular malformations. Anomalies of the ears and the auricles were present in 21%. Of these patients who had ocular abnormalities associated with other malformations, 45% had a chromosomal aberration; 44 of the 56 children afflicted with chromosomal anomalies had Down's syndrome. The high incidence of ocular anomalies associated with other malformations attests to the necessity of comprehensive investigations, including cytogenetic studies, to confirm or rule out chromosomal aberrations. In addition, detailed family studies to check for the existence of formes frustes are essential. Genetic counseling is indicated in every family which has a member with a congenital ocular anomaly.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009915:Orbit / Q000002:abnormalities*; D013577:Syndrome
Kongenitale Fehlbildungen im Bereich des Auges und deren Bedeutung für die Diagnostik übergeordneter Krankheitsbilder und die genetische Beratung.