Cornelia de Lange Syndrome: a case report with clinical review and recommended anticipatory guidance for the general practitioner.
Cornelia de Lange Syndrome is a rare congenital malformation syndrome with typical craniofacial abnormalities and can affect the musculoskeletal, cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Not all the patients look alike as the phenotypic appearance is seen on a spectrum. A classic case of CdLS has been reviewed in this article and we have discussed diagnosis, management, and anticipatory guidance. Maintaining consistent health supervision visits and outpatient therapy is vital for these children. Referring the parents to a genetic counselor is recommended if the family desires to have more children. The CdLS foundation Webpage is www.cdlsusa.org.
Theile
Anthony R
AR
University of Louisville, 571 S. Floyd Street Suite 342, Louisville, KY 40202, USA. arthei02@gwise.louisville.edu
Gowans
Gordon
G
D000367:Age Factors; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics; D005194:Family Practice / Q000592:standards; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D010353:Patient Education as Topic; D017410:Practice Guidelines as Topic