Case Report
Volume: 4 | Issue: 2 | Published: Feb 25, 2020 | Pages: 56 - 59 | DOI: 10.24911/ejmcr/173-1550967806
A case of Dubowitz syndrome with growth hormone deficiency
Authors: Ahmed Gamal Sherif , Ahmed Nageeb Masoud , Susy Kotit
Article Info
Authors
Ahmed Gamal Sherif
Pediatric Cardiac Intensive Care, Aswan Heart Centre, Aswan, Egypt
Ahmed Nageeb Masoud
Pediatric Cardiac Intensive Care, Aswan Heart Centre, Aswan, Egypt
Susy Kotit
Paediatric Cardiology, Aswan Heart Centre, Aswan, Egypt
Publication History
Received: March 11, 2019
Accepted: February 11, 2020
Published: February 25, 2020
Abstract
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, green
Pubmed Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. 2020; 25 (February 2020): 56-59. doi:10.24911/ejmcr/173-1550967806
Web Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. A case of Dubowitz syndrome with growth hormone deficiency. https://ejmcr.com/articles/1453 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1550967806
AMA (American Medical Association) Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. 2020; 25 (February 2020): 56-59. doi:10.24911/ejmcr/173-1550967806
Vancouver/ICMJE Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. (2020), [cited December 25, 2024]; 25 (February 2020): 56-59. doi:10.24911/ejmcr/173-1550967806
Harvard Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit (2020) A case of Dubowitz syndrome with growth hormone deficiency. EJMCR, 25 (February 2020): 56-59. doi:10.24911/ejmcr/173-1550967806
Chicago Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. "A case of Dubowitz syndrome with growth hormone deficiency." 25 (2020), 56-59. doi:10.24911/ejmcr/173-1550967806
MLA (The Modern Language Association) Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit. "A case of Dubowitz syndrome with growth hormone deficiency." 25.February 2020 (2020), 56-59. Print. doi:10.24911/ejmcr/173-1550967806
APA (American Psychological Association) Style
Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit (2020) A case of Dubowitz syndrome with growth hormone deficiency. , 25 (February 2020), 56-59. doi:10.24911/ejmcr/173-1550967806