Background: Dubowitz syndrome is a rare multiple congenital syndrome with unknown etiology, characterized primarily by growth retardation, distinctive facial dysmorphism, cutaneous eczema, microcephaly, intellectual deficit, skeletal and genital abnormalities, abnormal hematological and endocrinal findings, and other systemic affections.
Case Presentation: We report the case of a 3-year-old male patient presenting with repeated chest infections, failure to thrive, history of low birth weight, and seasonal skin allergies. Examination revealed abnormal facial features and skeletal and genital abnormalities along with delays in social development. Cardiac echocardiography showed atrial septal defect and ventricular septal defect. Blood tests revealed low growth hormone levels, and a clonidine stimulation test confirmed growth hormone deficiency.
Conclusion: Careful examination of the patient leads to the diagnosis of Dubowitz syndrome and growth hormone deficiency. The combination of these two findings has rarely been reported before, but patients may get the benefit of testing for growth hormone deficiency to receive proper treatment.
Key words: Case report, Dubowitz syndrome, short stature, low birth weight, rare disease
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