The Stickler syndrome (hereditary arthro-ophthalmopathy).
Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002657:Child Development; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007596:Joints / Q000002:abnormalities*; D008297:Male; D009216:Myopia / Q000235:genetics; D010855:Pierre Robin Syndrome / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications