Cargando…
Dubowitz syndrome: common findings and peculiar urine odor
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...
Autores principales: | Chehade, Cynthia, Awwad, Johnny, Yazbeck, Nadine, Majdalani, Marianne, Wakim, Rima, Tfayli, Hala, Farra, Chantal |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805180/ https://www.ncbi.nlm.nih.gov/pubmed/24159261 http://dx.doi.org/10.2147/TACG.S47777 |
Ejemplares similares
-
A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
por: Farra, Chantal, et al.
Publicado: (2011) -
Recurrent Ptosis in a Case of Dubowitz Syndrome
por: Agrawal, Sahil, et al.
Publicado: (2021) -
A young child with HIV and unsteady gait: A case report
por: Yazbeck, Nadine, et al.
Publicado: (2019) -
Anesthesia of a patient with Dubowitz syndrome -A case report-
por: Lee, Min Kee, et al.
Publicado: (2010) -
Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
por: Yue, Jingyin, et al.
Publicado: (2013)