Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Suppr

超能文献

作者信息

Ørstavik Karen Helene, Tangeraas Trine, Molven Anders, Prescott Trine E

机构信息

Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.

出版信息

Eur J Med Genet. 2007 Mar-Apr;50(2):155-8. doi: 10.1016/j.ejmg.2006.12.003. Epub 2007 Jan 20.

DOI:10.1016/j.ejmg.2006.12.003

PMID:17324647

Abstract

We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). This feature along with fetal pads was present in both children at birth and has persisted until age two years. Distal phalangeal creases, when present, may be a good diagnostic handle for syndromes belonging to the RAS signalling pathway.

摘要