Abstract :
Cornelia de-Lange syndrome is characterized by distinctive facial dysmorphism, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small widely spaced teeth and microcephaly. IQ ranges from between 30 and 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. It is an autosomal dominant disorder caused by specific gene mutations and occurrence is one in 10,000 to 50,000 children. This is a case report of a 2 1/2-year-old female child with Cornelia de-Lange syndrome phenotype.
Keyword :
Cornelia de-Lange syndrome (CdLS),synophrys,cleft palate.