Short stature in association with Cornelia de Lange syndrome – it is useful to administrate rhgh?

Abstract

Cornelia de Lange syndrome (CdLS) is a very rare genetic disorder that is apparent at birth (congenital). Since children with CdLS are often compared to a typical child’s grow rate, many are incorrectly diagnosed.In the absence of the genotyping, the diagnosis would be clinical: a range of criteria would be required, such as the facial features and criteria related to at least one of the following : development, behaviour or growth. Short-stature associated with CdLS is usually due to GH deficiency or GH resistance. However the response to GH administration in patients with CdLS was reported in a limited number of cases.We present the case of a female child 4,11 years old reffered for endocrinological evaluation of short stature. From her medical history we mention: language delay and a pulmonary valve regurgitation. At the time of evaluation, she presented short stature (-2,32 SDS) with a -3 SDS growth velocity during the past year, bone age was more than 2 years delayed compared to the chronological age (2,5 years), weight and head circumference below 5th percentile for age, synophrys, oral dystrophy, micrognathism and thin upper lip, down-turned corners of mouth, hypertrichosis, pulmonary systolic murmur, partial elbow extension.Facial findings and criteria met for two major categories confirm the CdLS. The endocrinological evaluation revealed short-stature with GH deficiency based on two GH values below 10 ng/mL during two stimulation tests . The patient began treatment with somatropin 0,04 mg/kg/day and the patient grew 3,5 cm in 6 months (-2,7 SDS for height).This case suggests that adequate evaluation of patients with CdLS and short stature could identify patients that are good candidate for GH treatment in order to improve final height.