Fraser syndrome and cryptophthalmos; a case report|
Khalesi, N; Salehi, F & poor, A Mohamadi
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.
Hemophagocytic lymphohistiocytosis , Pancytopenia , Hepatosplenomegaly , Lymphadenopathy , Skin rash