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The FG syndrome: report of a large Italian series.
Battaglia A, Chines C, Carey JC. Battaglia A, et al. Am J Med Genet A. 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. Am J Med Genet A. 2006. PMID: 16691600
Based on over 50 reported cases, FGS is associated with developmental delay (especially speech), hypotonia, postnatal onset relative macrocephaly, prominent forehead, frontal hair upsweep, telecanthus, or ocular hypertelorism, thin vermilion border of the upp …
Based on over 50 reported cases, FGS is associated with developmental delay (especially speech), hypotonia, postnatal onset relative macroce …
Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.
Cranston ME, Mhanni AA, Marles SL, Chudley AE. Cranston ME, et al. Can J Clin Pharmacol. 2009 Winter;16(1):e234-41. Epub 2009 Apr 16. Can J Clin Pharmacol. 2009. PMID: 19372601
The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and thin vermilion border of the upper lip. There are various methods for measuring palpebral fissure lengths (PFLs) and it c …
The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and …
Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e521-4. doi: 10.1016/j.ejmg.2011.06.007. Epub 2011 Jul 12. Eur J Med Genet. 2011. PMID: 21777705
As this duplication is one of the smallest reported 5q duplications, short stature and facial dysmorphism can be attributed to duplications of 5q22, whereas severe mental retardation is not part of the phenotypic spectrum of the 5q22.1-q23.2 region. Congenital heart defects, as …
As this duplication is one of the smallest reported 5q duplications, short stature and facial dysmorphism can be attributed to duplications …