 |
 |

Velázquez' Dwarfs: A Profusion of Diagnoses
L. David Mirkin, MD
Wright State University The Children's Medical Center Dayton, Ohio
JAMA. 1989;262(3):349-350.
 |
 |
| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
|
 |
 |
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.2
Mucolipidoses share many clinical and roentgenographic features with
. . . [Full Text PDF of this Article]
CiteULike Connotea Del.icio.us Digg Reddit Technorati Twitter
What's this?
|