ESPE Abstracts

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.

Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.

Method: We describe a 5 years and 4 months girl with developmental delay, growth retardation, motility disorders, mild tremor upper limb, craniofacial dysmorhic features (microcephaly, high arched palate, downslanting palpebral fissures, and micrognathia), camptodactyly, clinodactyly, and bilateral hypoplastic middle phalanges particularly of the fifth fingers of the upper and lower extremities and low degree of syndactyly. She had moderate intellectual disability with slow developmental milestones. She was unable to concentrate and therefore attended special education.

Results: No chromosomal abnormalities were detected by conventional karyotyping. Array CGH revealed a de novo 2q31.1 microdeletion. Endocrinological evaluation revealed GH deficiency. She was started on recombinant GH (160 μg/kg per week) and during the first 8 months of treatment she showed an increase in height velocity from a pretreatment value of 3.5–9 cm/year.

Conclusion: In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances, as it was in our case. We describe this case because of the rarity of this syndrome and its association with GH deficiency, which to the best of our knowledge has not been reported before.