Indian Pediatrics 2002; 39:1056-1057

Cornelia De Lange Syndrome

A six-year-old female child born out of nonconsanguineous parents with no adverse perinatal events was noticed to be having abnormal facies with microcephaly (head circumference 43 cms; < -3SD), bushy eyebrows meeting in the midline (synophrys) (Fig.1), down-turned upperlips and hypertrichosis and marked short stature (87.0 cm; < 80% of expected). Her upper segment to lower segment ratio was 1.5 and bone age was also retarded (3 years). There was no limb shortening. Child also had global retardation with recurrent seizures. Examination also revealed hirsuitism and contractures in all the four limbs. X-ray skull excluded craniosynostosis. Growth hormone assay was not done. Clinical diagnosis of Cornelia De Lange Syndrome was entertained.

Fig. 1. Hypertrichosis, bushy eyebrows meeting in the midline and typical facies.

The condition is characterized by microcephaly, bushy eyebrows meeting in the midline (synophrys), hypertrichosis, marked short stature and variable mental retardation and limb abnormality. Hirsuitism is usually seen in most of the patients. There is no fixed pattern of inheritance described. However, in some of these patients duplication of long arm of chromosome 3 has been described.

New Delhi 110 029, India.