These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Cutis laxa in Kabuki make-up syndrome.
    Author: Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B.
    Journal: J Am Acad Dermatol; 2005 Nov; 53(5 Suppl 1):S247-51. PubMed ID: 16227101.
    Abstract:
    Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft palate), cardiovascular defects, genitourinary and gastrointestinal tract anomalies, otologic and ophthalmologic abnormalities, and recurrent infections are also frequently present. It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority of patients are sporadic and show a wide spectrum of clinical features rules out the hypothesis that KMS is a condition with a microdeletion involving several contiguous genes. We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.
    [Abstract] [Full Text] [Related] [New Search]