TY - JOUR
T1 - Costello syndrome: Report and review
AU - van Eeghen, Agnies M.
AU - van Gelderen, Ietje
AU - Hennekam, Raoul C. M.
PY - 1999
Y1 - 1999
N2 - We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a 'coarse' face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
AB - We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a 'coarse' face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033555856&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/9934987
U2 - 10.1002/(SICI)1096-8628(19990115)82:2<187::AID-AJMG17>3.0.CO;2-2
DO - 10.1002/(SICI)1096-8628(19990115)82:2<187::AID-AJMG17>3.0.CO;2-2
M3 - Article
C2 - 9934987
VL - 82
SP - 187
EP - 193
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
SN - 1552-4825
IS - 2
ER -