Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
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.
Ørstavik
Karen Helene
KH
Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.
Tangeraas
Trine
T
Molven
Anders
A
Prescott
Trine E
TE
D002675:Child, Preschool; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities*; D006801:Humans; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics*; D018631:ras Proteins / Q000235:genetics / Q000378:metabolism*
C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins