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1987 1
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Page 1
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 common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism ( …
The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ea …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hype …
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated …
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, sho …
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial …
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.
Khan AO. Khan AO. Ophthalmic Genet. 2012 Dec;33(4):196-9. doi: 10.3109/13816810.2012.681097. Epub 2012 Jun 11. Ophthalmic Genet. 2012. PMID: 22686506
PURPOSE: To characterize a novel and distinct hereditary clinical syndrome of microcornea, myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears. METHODS: Retrospective series of patients referred to a pediatric ophthalmologist (2005-2010) an …
PURPOSE: To characterize a novel and distinct hereditary clinical syndrome of microcornea, myopic chorioretinal atrophy, telecanthus and …
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cle …
The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia o …
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y. Biard JM, et al. Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:232-241. doi: 10.1016/j.ejogrb.2019.06.035. Epub 2019 Jul 16. Eur J Obstet Gynecol Reprod Biol. 2019. PMID: 31336229 Review.
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fissures, a long and marked philtrum, and low-set posteriorly rotated ears) that allow for a "RASopathy" to be postulated …
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fi …
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Slavotinek A, Lefebvre M, Brehin AC, Thauvin C, Patrier S, Sparks TN, Norton M, Yu J, Huang E. Slavotinek A, et al. Eur J Med Genet. 2022 Feb;65(2):104407. doi: 10.1016/j.ejmg.2021.104407. Epub 2021 Dec 20. Eur J Med Genet. 2022. PMID: 34942405 Free PMC article.
Facial anomalies included downslanting palpebral fissures, wide-spaced eyes, low-set and posteriorly rotated ears, a small jaw, widely spaced nipples and hypoplastic nails. ...
Facial anomalies included downslanting palpebral fissures, wide-spaced eyes, low-set and posteriorly rotated ears, a sm …
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
Bagattoni S, D'Alessandro G, Sadotti A, Alkhamis N, Rocca A, Cocchi G, Krantz ID, Piana G. Bagattoni S, et al. Am J Med Genet A. 2016 Sep;170(9):2357-64. doi: 10.1002/ajmg.a.37815. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354242
Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly rotated ears. Oro-dental features, such as "Pallister lip," macroglossia, delayed …
Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long ph …
Noonan syndrome: introduction and basic clinical features.
Rohrer T. Rohrer T. Horm Res. 2009 Dec;72 Suppl 2:3-7. doi: 10.1159/000243772. Epub 2009 Dec 22. Horm Res. 2009. PMID: 20029230
The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, le …
The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpeb …
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.
Serra G, Antona V, Di Pace MR, Giuffrè M, Morgante G, Piro E, Pirrello R, Salerno S, Schierz IAM, Verde V, Corsello G. Serra G, et al. Ital J Pediatr. 2022 Dec 29;48(1):206. doi: 10.1186/s13052-022-01403-6. Ital J Pediatr. 2022. PMID: 36581928 Free PMC article.
CASE PRESENTATION: Hereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. ...
CASE PRESENTATION: Hereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set …
38 results