Russell-Silver syndrome: Short stature, long triangular face: A case report

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 323

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شناسه ملی سند علمی:

CCRMED03_309

تاریخ نمایه سازی: 20 بهمن 1398

چکیده مقاله:

Russell-Silver syndrome (RSS) is a rare but well recognized pattern of malformation. It is a heterogeneous imprinting disorder characterized by severe intrauterine and postnatal growth retardation, relative macrocephaly with characteristic triangular face, body (especially limb or facial) asymmetry, feeding difficulties, short stature, fifth finger clinodactyly, genital dysmorphia, hypoglycemia, scoliosis, failure to thrive and developmental dysplasia of the hips. All cases have normal intelligence (evidence about significant risk for learning disabilities and both motor and cognitive developmental delay is increasing, though), there may be some delay in motor developments, though. RSS has some etiologies but most cases are sporadic and incidence range is between 1 in 3000 and 1 in 100000. It also happens in both genders equally and has been reported from all types of races. No biomarker is available for diagnosis of RSS and 30-40% of suspicious patients remain without a genetic confirmation so differential diagnosis should be considered. : Here we report a 21-month-old Iranian girl (46, XX) who was referred to us for evaluation of abnormal shape of head, short height, limb asymmetry, and abnormal hands. Examination revealed a triangular face, fifth finger clinoductyly of right hand, short stature, relative macrocephaly, a height of 74 cm (below -3SD) and a weight of 6800 grams (below -3SD). History showed 2650 grams as birth weight (between -1SD and -2SD) and 48 cm as birth height (normal). The patient was suspected of RSS and was referred for genetic evaluations and hypomethylation of IC1 was detected in 11p15 region, which is a confirmation for RSS.:Three major criteria and three minor criteria for RSS were diagnosed and it was confirmed by genetic test. Therefore, GH therapy should be performed. Future psychological counseling and following-up for evaluation of developmental delay would be helpful.

نویسندگان

Shahab Nourian

MD: Department of Pediatrics Endocrinology and Metabolisms, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran

Rahman Matani,

MD: Department of Pediatrics Gastroenterology, Emam Ali Hospital, Alborz University of Medical Sciences and Health Services, Karaj, Iran

Peyman Saeidi,

Medical Student: Student Research Committee, Alborz University of Medical Sciences and Health Services, Karaj, Iran