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Dubowitz syndrome: common findings and peculiar urine odor

Authors Chehade C, Awwad J, Yazbeck N, Majdalani M, Wakim R, Tfayli H, Farra C

Received 8 May 2013

Accepted for publication 27 June 2013

Published 8 October 2013 Volume 2013:6 Pages 87—90


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 4

Cynthia Chehade,1 Johnny Awwad,2 Nadine Yazbeck,1 Marianne Majdalani,1 Rima Wakim,1 Hala Tfayli,1 Chantal Farra1,3

1Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; 2Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon; 3Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon

Background: Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown.
Case: We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth.
Conclusion: Although Dubowitz syndrome has been largely described in the medical literature, this is the first time that a peculiar urine odor was reported. This case report adds a new and unusual feature to the numerous findings related to this rare polymorphous syndrome.

Keywords: Dubowitz syndrome, autosomal recessive, developmental delay, odorous urine

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