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Year Number of Results
1975 1
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2007 6
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204 results

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Quoted phrase not found in phrase index: "Abnormality of the palpebral fissures"
Page 1
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
RESULTS: The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, developmental delay and/or intellectual disability, and one or both of the following major criteria: (1) a pathogenic or likely pathogenic varia …
RESULTS: The authors propose that a definitive diagnosis can be made in an individual of any age with a history of infantile hypotonia, deve …
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S. Athota JP, et al. BMC Med Genet. 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. BMC Med Genet. 2020. PMID: 32164556 Free PMC article.
The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of …
The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affecte …
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B. Suthers G, et al. Clin Dysmorphol. 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. Clin Dysmorphol. 1997. PMID: 9220195 Review.
The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. ...
The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects o …
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting pal …
The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of …
Post-external dacryocystorhinostomy lagophthalmos.
Odat TA, Odat HA, Khraisat H, Odat MA, Alzoubi FQ. Odat TA, et al. Int Ophthalmol. 2015 Jun;35(3):375-9. doi: 10.1007/s10792-014-9957-1. Epub 2014 Jun 7. Int Ophthalmol. 2015. PMID: 24906865
To describe lagophthalmos and eyelid closure abnormality after external dacryocystorhinostomy (DCR). A retrospective review of medical records and postoperative photographs of 79 patients who underwent external DCR for nasolacrimal duct obstruction and developed eyelid clo …
To describe lagophthalmos and eyelid closure abnormality after external dacryocystorhinostomy (DCR). A retrospective review of medica …
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depress …
It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hair …
Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW. Sommer A, et al. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. Am J Med Genet A. 2003. PMID: 14556253
The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an antimongoloid slant, a depressed nasal bridge with a button tip and slitlike nares and a small "pursed" mouth. ...
The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an an …
Duplication 9q34 syndrome.
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G. Allderdice PW, et al. Am J Hum Genet. 1983 Sep;35(5):1005-19. Am J Hum Genet. 1983. PMID: 6613995 Free PMC article.
Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. ...Features at birth include: d …
Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal …
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH. Rubinstein JH. Am J Med Genet Suppl. 1990;6:3-16. doi: 10.1002/ajmg.1320370603. Am J Med Genet Suppl. 1990. PMID: 2118774 Review.
The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or …
The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad …
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures, and hypertelorism. Other less common findings include strabismus, astigmatism, and optic nerve hypoplasia. ...
Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures …
204 results