Cryptophthalmos syndrome with basal encephaloceles.
A 2,144-g white girl was born with absence of the right ear and eye, cleft lip and palate, two basal encephaloceles, tricuspid atresia, ventricualr and atrial septal defects, detransposition of the great vessels, right aortic arch, and aberrant right subclavian artery. Through an oval defect in the center of the sphenoid bone, soft tissue protruded into the right nasopharynx. The medial portions of the roof of both orbits and the cribriform plate were absent and soft tissue protruded through this bony defect. Basal tomography was required to demonstrate the encephaloceles, which should be suspected in any child with a median cleft syndrome, a flat broad nasal root, and hypertelorism.
D000015:Abnormalities, Multiple; D001015:Aortic Arch Syndromes / Q000150:complications; D002971:Cleft Lip; D002972:Cleft Palate; D004423:Ear / Q000002:abnormalities; D004677:Encephalocele / Q000150:complications* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006344:Heart Septal Defects, Atrial; D006345:Heart Septal Defects, Ventricular; D006801:Humans; D009667:Nose Deformities, Acquired / Q000150:complications; D009915:Orbit / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D012868:Skin Abnormalities; D013100:Sphenoid Bone / Q000002:abnormalities; D013348:Subclavian Artery / Q000002:abnormalities; D013576:Syndactyly / Q000150:complications; D013577:Syndrome; D014188:Transposition of Great Vessels / Q000150:complications; D014261:Tricuspid Valve / Q000002:abnormalities; D014564:Urogenital Abnormalities