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July 21, 1989

Velázquez' Dwarfs: A Profusion of Diagnoses

Author Affiliations

Wright State University The Children's Medical Center Dayton, Ohio

Wright State University The Children's Medical Center Dayton, Ohio

JAMA. 1989;262(3):349-350. doi:10.1001/jama.1989.03430030037016

To the Editor.—  Velázquez was right: the tongue is not missing.I was delighted with Dr Dominguez'1 review on Velázquez. But I have some reservations concerning the implied diagnosis of cretinism. True, the sitter exhibits facial features that bring hypothyroidism to mind as one of the possible differential diagnoses. The head is large with frontal bossing, the nasal bridge is broad and depressed, the tip of the nose is wide, and the nostrils are antiverted. The mouth is mildly open and shows separate lateral incisors and, as Dr Dominguez points out, "only a protruding tongue is missing." There is cranial and facial asymmetry, more noticeable when comparing the eyebrows, eyes, and nostrils. If clouding of the corneas was present, mucopolysaccharidoses would have to be considered as well as aspartylglycosaminuria, which has frequently been confused with the Hurler or Hunter's syndromes.2Mucolipidoses share many clinical and roentgenographic features with