Document Detail

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
MedLine Citation:
PMID:  17324647     Owner:  NLM     Status:  MEDLINE    
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.
Karen Helene Ørstavik; Trine Tangeraas; Anders Molven; Trine E Prescott
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Publication Detail:
Type:  Journal Article     Date:  2007-01-20
Journal Detail:
Title:  European journal of medical genetics     Volume:  50     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2007 Mar-Apr
Date Detail:
Created Date:  2007-03-19     Completed Date:  2007-05-29     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  155-8     Citation Subset:  IM    
Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.
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MeSH Terms
Child, Preschool
Finger Phalanges / abnormalities*
Noonan Syndrome / diagnosis*,  genetics
Proto-Oncogene Proteins p21(ras) / genetics*
Signal Transduction / genetics*
Skin Abnormalities / diagnosis,  genetics*
ras Proteins / genetics,  metabolism*
Reg. No./Substance:
EC protein, human; EC Proteins p21(ras); EC Proteins
Comment In:
Eur J Med Genet. 2007 Nov-Dec;50(6):482-3   [PMID:  17974516 ]

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