OBJECTIVETo explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports.

METHODClinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the clinical and molecular biological research on this disease were reviewed.

RESULT(1) The patient was an infant with intrauterine growth retardation and born as a term small for gestational age infant with specific facial features, bone abnormality of extremities, and patent ductus arteriosus (PDA). She also had severe feeding difficulty and slow weight gain. She was followed up till 4 months of age and showed severe developmental retardation. (2) The total number of past reported case of CdLS in China was 17 with a male to female ratio of 6:12. The average age of diagnosis was 17 months. The following specific facial features could be observed: synophrys, long and curved eyelashes, hirsutism, microcephalus, low hairline, broad depressed nasal bridge, long prominent philtrum, and high palate. Most of the patients were complicated with mental retardation, recurrent vomiting or feeding difficulty, abnormal muscle tone, cutis marmorata, hypophalangism, and genitalia anomaly. Clinical manifestations of Chinese patients were similar to those of the overseas reports. The karyotype of 15 cases was investigated and was normal. The etiology of CdLS is unknown. There is no specific treatment. The commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.

CONCLUSIONTypical clinical manifestations of CdLS are specific facial features (mainly synophrys, long and curved eyelashes, long prominent philtrum), complications of multi-system malformations (mainly growth and developmental retardation, esophagogastric reflex, hypophalangism), related gene mutations occurred in NIPBL, SMC1A, and SMC3 gene.