Fragile X syndrome differential diagnosis: Difference between revisions
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*Sotos syndrome: Presents with intellectual disabilities, elongated face and tall stature. | *Sotos syndrome: Presents with intellectual disabilities, elongated face and tall stature. | ||
*Prader-willi syndrome: Presents with intellectual disabilities, poor tone, distinctive facial features (almond shaped eye with narrowing of head at temples) and under developed genitals. | *Prader-willi syndrome: Presents with intellectual disabilities, poor tone, distinctive facial features (almond shaped eye with narrowing of head at temples) and under developed genitals. | ||
*Klinefelter: Presents with mild intellectual disabilities, tall stature and under-developed genitals. | |||
== References == | == References == | ||
<ref name="pmid25767309">{{cite journal| author=Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R| title=Fragile X syndrome. | journal=Colomb Med (Cali) | year= 2014 | volume= 45 | issue= 4 | pages= 190-8 | pmid=25767309 | doi= | pmc=4350386 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25767309 }} </ref> | <ref name="pmid25767309">{{cite journal| author=Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R| title=Fragile X syndrome. | journal=Colomb Med (Cali) | year= 2014 | volume= 45 | issue= 4 | pages= 190-8 | pmid=25767309 | doi= | pmc=4350386 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25767309 }} </ref> | ||
Revision as of 14:46, 16 September 2021
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Fragile X syndrome must be differentiated from other diseases that cause mental retardation, change in stature, and increase in testicular size, such as sotos syndrome, Prader-willi syndrome and klinefelter syndrome.
Differential Diagnosis
Fragile X syndrome must be differentiated from Sotos syndrome, Prader-willi syndrome, Lujan syndrome, Learning difficulties, Autism spectrum disorder and Klinefelter syndrome, which are the common causes of intellectual disabilities.
- Sotos syndrome: Presents with intellectual disabilities, elongated face and tall stature.
- Prader-willi syndrome: Presents with intellectual disabilities, poor tone, distinctive facial features (almond shaped eye with narrowing of head at temples) and under developed genitals.
- Klinefelter: Presents with mild intellectual disabilities, tall stature and under-developed genitals.