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

Year Number of Results
1983 1
1986 1
1993 1
2003 1
2006 1
2007 1
2008 1
2010 1
2016 1
2017 2
2018 1
2020 1
2021 1
2022 1
2023 1
2024 0

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13 results

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Page 1
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.
Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. ...
Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal …
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M. Pelc A, et al. Dent Med Probl. 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. Dent Med Probl. 2018. PMID: 30152628 Free article. Review.
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hea …
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline …
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.
Ullah A, Kalsoom UE, Umair M, John P, Ansar M, Basit S, Ahmad W. Ullah A, et al. Clin Genet. 2017 Mar;91(3):494-498. doi: 10.1111/cge.12822. Epub 2016 Jul 12. Clin Genet. 2017. PMID: 27324866
Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. ...
Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide pro …
Quantitative dysmorphology assessment in Fabry disease.
Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of the ears, bushy eyebrows, recessed forehead, pronounced nasal angle, generous nose/bulbous nasal tip, prominent supraorbital ridges, shallow m …
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of th …
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. Rohatgi S, et al. Am J Med Genet A. 2010 Jul;152A(7):1641-53. doi: 10.1002/ajmg.a.33441. Am J Med Genet A. 2010. PMID: 20583156 Free PMC article.
This survey demonstrated that emphasis is placed on the eyebrows, nasal features, prominent upper lip and micrognathia. In addition, the presence of fuller, atypical eyebrows, a prominent nasal bridge and significant prognathism with age dissuaded survey take …
This survey demonstrated that emphasis is placed on the eyebrows, nasal features, prominent upper lip and micrognathia. In addition, the pre …
The face of Joubert syndrome: a study of dysmorphology and anthropometry.
Braddock SR, Henley KM, Maria BL. Braddock SR, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3235-42. doi: 10.1002/ajmg.a.32099. Am J Med Genet A. 2007. PMID: 18000967
Dysmorphology findings included long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid shaped mouth, lower lip eversion, and thick ear lobes. ...
Dysmorphology findings included long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and …
Magnetic Resonance Imaging Features of Medial Canthal Tendon in Centurion Syndrome.
Alam MS, Tongbram A, Noronha OV. Alam MS, et al. Curr Eye Res. 2021 Apr;46(4):592-595. doi: 10.1080/02713683.2020.1817492. Epub 2020 Sep 7. Curr Eye Res. 2021. PMID: 32857945
None of the patients with normal insertion had the classical beak sign or prominent nasal bridge. CONCLUSION: The anterior limb of the MCT may not always be inserted anteriorly in cases of Centurion syndrome; it can be normal or mal-developed. ...
None of the patients with normal insertion had the classical beak sign or prominent nasal bridge. CONCLUSION: The anter …
Long-term Surgical Outcomes in Patients of Centurion Syndrome: A Mystic Etiology of Epiphora in Young.
Singh M, Kaur M, Mehta A, Sharma M, Gupta P. Singh M, et al. Semin Ophthalmol. 2023 May;38(4):380-386. doi: 10.1080/08820538.2022.2102931. Epub 2022 Jul 24. Semin Ophthalmol. 2023. PMID: 35876053
CS was diagnosed clinically based on the anterior displacement of MCT, anterior dislocation of lacrimal punctum out of tear lake, prominent nasal bridge, beak sign, and synophyrs. All symptomatic patients were advised the anterior limb of MCT release with mod …
CS was diagnosed clinically based on the anterior displacement of MCT, anterior dislocation of lacrimal punctum out of tear lake, promine …
Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.
Tharapel SA, Lewandowski RC, Tharapel AT, Wilroy RS Jr. Tharapel SA, et al. J Med Genet. 1986 Aug;23(4):310-5. doi: 10.1136/jmg.23.4.310. J Med Genet. 1986. PMID: 3746829 Free PMC article.
In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. ...
In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal …
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
Wonkam A, Toko R, Chelo D, Tekendo-Ngongang C, Kingue S, Dahoun S. Wonkam A, et al. Glob Heart. 2017 Jun;12(2):115-120. doi: 10.1016/j.gheart.2017.01.003. Epub 2017 Mar 13. Glob Heart. 2017. PMID: 28302550 Free article.
., puffy upper eyelids, bulbous tip of the nose) or less identifiable (telecanthus, hooding of eyelids and prominent nasal bridge). CONCLUSIONS: The report shows that the prevalence of the 22q11.2 deletion syndrome in patients with heart malformations in Came …
., puffy upper eyelids, bulbous tip of the nose) or less identifiable (telecanthus, hooding of eyelids and prominent nasal …
13 results