PT  - JOURNAL ARTICLE
AU  - D K Williams
AU  - D R Carlton
AU  - S H Green
AU  - K Pearman
AU  - T R Cole
TI  - Marshall-Smith syndrome: the expanding phenotype.
AID  - 10.1136/jmg.34.10.842
DP  - 1997 Oct 01
TA  - Journal of Medical Genetics
PG  - 842--845
VI  - 34
IP  - 10
4099  - http://jmg.bmj.com/content/34/10/842.short
4100  - http://jmg.bmj.com/content/34/10/842.full
SO  - J Med Genet1997 Oct 01; 34
AB  - We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respiratory complications and failure to thrive was initiated. By 3 1/2 years of age, although our patient had no life threatening respiratory complications, investigation showed significant upper airway obstruction, which has been successfully treated. Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile. The purpose of this report is to suggest that early diagnosis and aggressive management may improve the ultimate prognosis with respect to the respiratory and feeding difficulties seen in this rare syndrome.