EJMCR. 2020; 4(2): 56-59

A case of Dubowitz syndrome with growth hormone deficiency

Authors: Ahmed Gamal Sherif, Ahmed Nageeb Masoud, Susy Kotit.

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


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A case of Dubowitz syndrome with growth hormone deficiency


Authors
Ahmed Gamal Sherif
Pediatric Cardiac Intensive Care, Aswan Heart Centre, Aswan, Egypt
PubMed articlesGoogle scholar articles

Ahmed Nageeb Masoud
Pediatric Cardiac Intensive Care, Aswan Heart Centre, Aswan, Egypt
PubMed articlesGoogle scholar articles

Susy Kotit
Paediatric Cardiology, Aswan Heart Centre, Aswan, Egypt
PubMed articlesGoogle scholar articles


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

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Pubmed Style

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


Web Style

Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. https://www.ejmcr.com/?mno=33224 [Access: June 04, 2020]. doi:10.24911/ejmcr/173-1550967806


AMA (American Medical Association) Style

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


Vancouver/ICMJE Style

Sherif AG, Masoud AN, Kotit S. A case of Dubowitz syndrome with growth hormone deficiency. EJMCR. (2020), [cited June 04, 2020]; 4(2): 56-59. doi:10.24911/ejmcr/173-1550967806


Harvard Style

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


Turabian Style

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


Chicago Style

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


MLA (The Modern Language Association) Style

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


APA (American Psychological Association) Style

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


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