ACL Syndrome (Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome)
General: Autosomal dominant; rare; three 222d37c features include cutis verticis, associated with acromegaly and corneal leukoma; onset by age I year.
Ocular: Bilateral corneal leukoma; keratitis.
Clinical: Unusually tall; large hands, feet, and chin; skin of hands very soft; skin of scalp lies in folds; frontal bosses; ear calcification; pituitary tumors; abnormal dermal ridge patterns; enlargement of supraorbital arch of frontal bone.
Antine BE, et al. Fibroma of the cornea. Arch Ophthalmol
Kenyon KR. Mesenchymal dysgenesis in Peter anomaly, sclerocornea and congenital endothelial dystrophy. Exp Eye Res 1975; 21:124.
Oculopharyngeal Syndrome (progressive Muscular Dystrophy with Ptosis and Dysphagia; Oculopharyngeal Muscular Dystrophy) [...] |
Oculo-Osteocutaneous Syndrome Gene [...] |
Clivus Edge Syndrome &nbs [...] |
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