身材矮小
未能茁壮成长
面部畸形
半肥大
生长迟缓
儿科
遗传性疾病
医学
外科
内科学
遗传学
生物
表型
基因
疾病
怀孕
作者
H S Rajani,D. Narayanappa,Deepa Bhat,Aditya Batra,Sathya Narayana Prashanth
出处
期刊:Sudanese journal of paediatrics
[Discover STM Publishing Ltd.]
日期:2023-01-01
卷期号:: 239-242
标识
DOI:10.24911/sjp.106-1668092616
摘要
Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000 1. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.
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