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Quoted phrase not found in phrase index: "Frontal upsweep of hair"
Page 1
Scalp hair patterns in mental subnormality.
David TJ, Osborne CM. David TJ, et al. J Med Genet. 1976 Apr;13(2):123-6. doi: 10.1136/jmg.13.2.123. J Med Genet. 1976. PMID: 132531 Free PMC article.
Five out of 44 patients with microcephaly had a distinct 'up-sweep' of the frontal hair, a much lower proportion than found previously. Patients with unspecified mental subnormality had a highly significant deficit of multiple occipital whorls. Cutis verticis gyrata …
Five out of 44 patients with microcephaly had a distinct 'up-sweep' of the frontal hair, a much lower proportion than found pr …
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 …
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399
We report on a male child with a 0.19 MB intragenic deletion that is predicted to result in haploinsufficiency of FOXP1. Review of our patient and others reported in the literature reveals an emerging phenotype of GDD/ID with moderate to severe speech delay where expressiv …
We report on a male child with a 0.19 MB intragenic deletion that is predicted to result in haploinsufficiency of FOXP1. Review of ou …
X-linked cutaneous amyloidosis: further clinical and pathological observations.
Partington MW, Prentice RS. Partington MW, et al. Am J Med Genet. 1989 Jan;32(1):115-9. doi: 10.1002/ajmg.1320320125. Am J Med Genet. 1989. PMID: 2705473
These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy-brown pigmentation seen first on the inner thighs and spreading diffusely t …
These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair wi …
A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].
Krajewska-Walasek M, Gutkowska A, Mospinek-Krasnopolska M, Chrzanowska K. Krajewska-Walasek M, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):245-50. doi: 10.1017/s0001566000001392. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872040
Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental re …
Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high fo …