Mulvihill-Smith syndrome: case report and review.
Bartsch O, Tympner KD, Schwinger E, Gorlin RJ.
Bartsch O, et al.
J Med Genet. 1994 Sep;31(9):707-11. doi: 10.1136/jmg.31.9.707.
J Med Genet. 1994.
PMID: 7815440
Free PMC article.
Review.
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice. ...We show here that the condition is identical to the Mulvihill-Smith syndrome (McKusick 176690), a progeroid …
We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, …