J Korean Child Neurol Soc.  2012 Mar;20(1):23-27.

A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome

• No SJ
• Kim DO
• Lee SM
• Lee JS

Abstract

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.

Keyword

Cri du Chat syndrome; Developmental delay

MeSH Terms

Arm
Centers for Disease Control and Prevention (U.S.)
Chenodeoxycholic Acid
Chromosomes, Human, Pair 5
Cri-du-Chat Syndrome
Fetal Alcohol Syndrome
Humans
Infant
Intellectual Disability
Chenodeoxycholic Acid