Dubowitz syndrome

A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive facies. OMIM: 223370

Also Known As:

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mulibrey Nanism (Mulibrey Nanism Syndrome)
2.	Wounds and Injuries (Trauma)
3.	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
4.	Pneumonia (Pneumonitis)
5.	Noonan Syndrome (Female Pseudo-Turner Syndrome)

Experts

1.	Alajmi, Ali: 1 article (01/2018)
2.	Jfri, Abdulhadi: 1 article (01/2018)
3.	Haffty, Bruce G: 1 article (01/2013)
4.	Lan, Shijie: 1 article (01/2013)
5.	Liu, Jingmei: 1 article (01/2013)
6.	Lu, Huimei: 1 article (01/2013)
7.	Shen, Zhiyuan: 1 article (01/2013)
8.	Stein, Mark N: 1 article (01/2013)
9.	Yue, Jingyin: 1 article (01/2013)
10.	Akawi, Nadia A: 1 article (06/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dubowitz syndrome:

1.	CholesterolIBA 01/01/2008 - "Dubowitz syndrome: a cholesterol metabolism disorder?" 10/29/1999 - "Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?" 03/01/2011 - "BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. "
2.	Growth Hormone (Somatotropin)IBA 05/01/2003 - "We present a case of Dubowitz syndrome with growth hormone deficiency. " 06/01/1996 - "Growth hormone deficiency in Dubowitz syndrome." 06/01/1996 - "A child with Dubowitz syndrome, who was found to have complete growth hormone (GH) deficiency and who responded to growth hormone therapy, is described. "
3.	SilverIBA 06/01/2011 - "However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver-Russel syndrome (SRS), Three M syndrome (3-M), Dubowitz syndrome, and Mulibrey nanism. "
4.	Immunoglobulin E (IgE)IBA 05/01/2008 - "The hyper-immunoglobulin E (hyper-IgE or Job syndrome) is a primary immunodeficiency characterized by recurrent staphylococcal abscesses, recurrent cyst-forming pneumonia, and an elevated serum IgE level of >2000 IU/ml. We present the first case to our knowledge of an association between Dubowitz syndrome, hyper-IgE syndrome, and nasal polyposis (due to allergic fungal sinusitis) in a 14-year-old girl. "
5.	Doxorubicin (Adriamycin)FDA LinkGeneric 01/01/2013 - "Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. "
6.	Complement System Proteins (Complement)IBA 01/01/2013 - "Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. "
7.	Bleomycin (Blenoxane)FDA LinkGeneric 01/01/2013 - "Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. "
8.	Anesthetics (Anesthetic Agents)IBA 05/01/2010 - "We report the uneventful anesthetic management of a 16-year-old girl with Dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia. "
9.	DNA Ligase ATPIBA 01/01/2013 - "These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations." 01/01/2013 - "Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. "
10.	FlaminIBA 01/01/2018 - "Spontaneous keloids have been reported mainly in association with syndromes such as Rubinstein-Taybi syndrome, Dubowitz syndrome, Noonan syndrome, Goeminne syndrome, Bethlem myopathy, conjunctivocorneal dystrophy, X-linked recessive polyfibromatosis and a novel X-linked syndrome with flamin A mutation. "

Therapies and Procedures

1.	Therapeutics 06/01/1996 - "A child with Dubowitz syndrome, who was found to have complete growth hormone (GH) deficiency and who responded to growth hormone therapy, is described. "
2.	Osteotomy 02/01/2003 - "In the period June 2001-May 2002 submental intubation was performed on five patients with cranio-maxillofacial trauma and on two patients with cranio-facial anomalies (Dubowitz syndrome (LeFort II osteotomy and distraction) in one patient and cheilognathopalatoschisis (Le Fort I osteotomy and distraction) in the other). "
3.	Hysterectomy 05/01/2010 - "We report the uneventful anesthetic management of a 16-year-old girl with Dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia. "
4.	Hearing Aids (Hearing Aid) 03/01/2009 - "A nine-year-old girl with Dubowitz syndrome sustained an intrusion injury of her bone-anchored hearing aid fixture and abutment following a fall. "
5.	General Anesthesia 05/01/2010 - "We report the uneventful anesthetic management of a 16-year-old girl with Dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia. "