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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2004 1
2005 1
2007 1
2008 1
2009 2
2010 1
2011 4
2012 3
2013 2
2015 1
2017 2
2018 2
2020 1
2021 2
2022 3
2023 1
2024 1

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27 results

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Page 1
Kagami-Ogata syndrome: a case report.
Suriapperuma T, Randeny S, Mettananda S. Suriapperuma T, et al. J Med Case Rep. 2022 Jul 22;16(1):284. doi: 10.1186/s13256-022-03512-6. J Med Case Rep. 2022. PMID: 35864517 Free PMC article.
On examination, the baby had facial dysmorphism with a hirsute forehead, full cheeks, flat nasal bridge, elongated protruding philtrum, and micrognathia. ...
On examination, the baby had facial dysmorphism with a hirsute forehead, full cheeks, flat nasal bridge, elongated protruding …
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewin …
Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly …
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C. Sanlaville D, et al. Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears …
The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial fe …
Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE, Casas KA. Falk RE, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. doi: 10.1002/ajmg.c.30153. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910077 Review.
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae. ...
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full chee …
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.
The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. ...
The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without g …
Robinow syndrome: a diagnosis at the fingertips.
Murali CN, Keena B, Zackai EH. Murali CN, et al. Clin Dysmorphol. 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. Clin Dysmorphol. 2018. PMID: 29864040 Free PMC article.
Her facial dys-morphology included frontal bossing, malar hypoplasia, flat nasal bridge, hypertelorism, anteverted nares, and full cheeks (Fig. 2). Imaging was notable for normal-appearing uterus but no gonadal tissue on pelvic ultra-sound, as well as bifid distal p …
Her facial dys-morphology included frontal bossing, malar hypoplasia, flat nasal bridge, hypertelorism, anteverted nares, and full …
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C. Tripon F, et al. Genes (Basel). 2020 May 28;11(6):596. doi: 10.3390/genes11060596. Genes (Basel). 2020. PMID: 32481733 Free PMC article.
PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid's …
PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear …
Frank-Ter Haar Syndrome.
Saeed M, Shair QA, Saleem SM. Saeed M, et al. J Coll Physicians Surg Pak. 2011 Apr;21(4):252-3. J Coll Physicians Surg Pak. 2011. PMID: 21453629
The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccyge …
The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without …
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130
We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculo …
We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that …
A journey towards answers: Bonnie Odgers Meets Dr. John Graham.
Scott AL, Odgers B. Scott AL, et al. Am J Med Genet A. 2021 Sep;185(9):2627-2629. doi: 10.1002/ajmg.a.62210. Epub 2021 Apr 21. Am J Med Genet A. 2021. PMID: 33881201
This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. Characteristics of HIST1H1E are curved fingers, full cheeks, high forehead, speech impairments and mild to severe intellectual …
This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. C …
27 results