Chehade Cynthia, Awwad Johnny, Yazbeck Nadine, Majdalani Marianne, Wakim Rima, Tfayli Hala, Farra Chantal
Department of pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Appl Clin Genet. 2013 Oct 8;6:87-90. doi: 10.2147/TACG.S47777. eCollection 2013.
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.
We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth.
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.
杜波维茨综合征是一种罕见的常染色体隐性疾病，其特征为宫内和出生后生长发育迟缓、严重小头畸形、精神运动发育迟缓、多动、湿疹以及特征性的面部畸形。尽管已报道了许多病例，但该病的病因仍不清楚。
我们在此报告一名患有杜波维茨综合征的黎巴嫩女孩的病例，自出生以来一直有令人不悦的尿味。
尽管医学文献中对杜波维茨综合征已有大量描述，但这是首次报道有特殊的尿味。该病例报告为与这种罕见的多形性综合征相关的众多发现增添了一个新的不寻常特征。
