search
for
 About Bioline  All Journals  Testimonials  Membership  News  Donations


Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 16, No. 3, 2006, pp. 349-353
Bioline Code: pe06048
Full paper language: Farsi
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 16, No. 3, 2006, pp. 349-353

 en Fraser syndrome and cryptophthalmos; a case report
Khalesi, N; Salehi, F & poor, A Mohamadi

Abstract


Objective: Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The prevalence of FS was previously estimated to be approximately 11 cases in 100.000 live births.The inheritance is autosomal recessive. This is the first report of this syndrome in Iran.
Case presentation: We present a 2 days old girl neonate with the chief complaint of unilateral cryptophthalmos (left side) and Fraser syndrome. The mains symptoms and signs of this patients were low set ears, abdominal distention and vomiting, naries closure, upper extremity, syndactyly and rectovestibular fistula. Sonography and ecchocardiography was done and a single right kidney in right upper quadrant and patent ductus arteriosus (PDA) were detected. The patient was operated with under total corrected anoplasty and was discharged with a good general condition.
Conclusion: Fraser syndrome is a rare syndrome, but it must be suggested in craniofacial malformation especially cryptophthalmos.

Keywords
Hemophagocytic lymphohistiocytosis , Pancytopenia , Hepatosplenomegaly , Lymphadenopathy , Skin rash

 
© Copyright 2006 - TUMS PUBLICATIONS
Alternative site location: http://diglib.tums.ac.ir/pub/

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2017, Site last up-dated on 16-Oct-2017.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Internet Data Center of Rede Nacional de Ensino e Pesquisa, RNP, Brazil