A case of Dubowitz syndrome with growth hormone deficiency
Authors: Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit
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.
Keywords: Case report, Dubowitz syndrome, short stature, low birth weight, rare disease
Authors
Correspondence to:
Ahmed Gamal Sherif, Pediatric Cardiac Intensive Care, Aswan Heart Centre, Aswan, Egypt AGSS85@yahoo.com
Publication history:
Received 11 Mar 2019
Revised 03 Nov 2019
Accepted 11 Feb 2020
Published online 25 Feb 2020
Published in print 12 Mar 2020
Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. 2020; 4(2): 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. https://www.ejmcr.com/?mno=33224 [Access: April 20, 2024]. doi:
10.24911/ejmcr/173-1550967806
Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. 2020; 4(2): 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. (2020), [cited April 20, 2024]; 4(2): 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif, A. G., Masoud, . A. N. & Kotit, . S. (2020) A case of Dubowitz syndrome with growth hormone deficiency. EJMCR, 4 (2), 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif, Ahmed Gamal, Ahmed Nageeb Masoud, and Susy Kotit. 2020. A case of Dubowitz syndrome with growth hormone deficiency. European Journal of Medical Case Reports, 4 (2), 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif, Ahmed Gamal, Ahmed Nageeb Masoud, and Susy Kotit. "A case of Dubowitz syndrome with growth hormone deficiency." European Journal of Medical Case Reports 4 (2020), 56-59. doi:
10.24911/ejmcr/173-1550967806
Sherif, Ahmed Gamal, Ahmed Nageeb Masoud, and Susy Kotit. "A case of Dubowitz syndrome with growth hormone deficiency." European Journal of Medical Case Reports 4.2 (2020), 56-59. Print. doi:
10.24911/ejmcr/173-1550967806
Sherif, A. G., Masoud, . A. N. & Kotit, . S. (2020) A case of Dubowitz syndrome with growth hormone deficiency. European Journal of Medical Case Reports, 4 (2), 56-59. doi:
10.24911/ejmcr/173-1550967806