scholarly journals Johanson-Blizzard Syndrome with Short Stature

2016 ◽  
Vol 35 (3) ◽  
pp. 287-289
Author(s):  
Enayatollah Nemat Khorasani ◽  
Fariba Mansouri
Keyword(s):  
Hearing Loss ◽  
Mental Retardation ◽  
Short Stature ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Growth Failure ◽  
Signs And Symptoms ◽  
Pancreatic Disease ◽  
Abnormal Development ◽  
Exocrine Dysfunction

Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. We report a ten years Irannian child with signs and symptoms suggestive of this syndrome (JBS).J Nepal Paediatr Soc 2015;35(3):287-289.

scholarly journals A newborn with Dubowitz syndrome: a case report

2014 ◽  
Author(s):  
Özkan İlhan ◽  
Senem Alkan ◽  
Yaşar Bekir Kublay ◽  
Esra Arun Özer
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Ventricular Septal Defect ◽  
Short Stature ◽  
Skin Eruption ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Recessive Disorder ◽  
Severe Mental Retardation ◽  
Dubowitz Syndrome

Dubowitz syndrome was first reported in 1965 by Victor Dubowitz. Dubowitz syndrome is a rare autosomal recessive disorder characterized by microcephaly, short stature, abnormal faces, eczematous skin eruption, and mild to severe mental retardation. In this review, we describe a female newborn with microcephaly, micrognathia, high narrow, syndactyly, clinodactyly, ventricular septal defect, poor feeding and sacral dimple. Here, we heard the requirement to report this case because of rarity.

scholarly journals Severe Ocular Surface abnormalities in a child and Ectodermal Dysplasia: A Case Report.

2019 ◽  
Vol 7 (7) ◽  
pp. 2845
Author(s):  
Shailender Minhas ◽  
Rajeev Tuli ◽  
Gaurav Sharma
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Systemic Disease ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Abnormal Development ◽  
Body Sensation ◽  
Younger Age ◽  
The Family

Ectodermal Dysplasia is a disorder that occurs due to abnormal development of at least two major ectodermal derivatives in the developing embryo. Author report the case of a 10 year old male child who was referred to our department with complaints of absent sweating, foreign body sensation and watering in both eyes for past few months. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age.  The purpose of this case report is to create awareness in the Ophthalmic community about the diagnosis and clinical manifestations of the disorder. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evolution of affected individual and carriers and genetic counseling.

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