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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 …
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 …
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC. van Trier DC, et al. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25862627
RESULTS: External ear anomalies were reported in 75 NS patients (77%). In 69 patients the ears were low-set, 28 patients had posteriorly rotated ears, 14 patients showed protruding ears and 18 had thickened helices. ...
RESULTS: External ear anomalies were reported in 75 NS patients (77%). In 69 patients the ears were low-set, 28 patients had posteriorly …
Are 22q11.2 distal deletions associated with math difficulties?
Carvalho MR, Vianna G, Oliveira Lde F, Costa AJ, Pinheiro-Chagas P, Sturzenecker R, Zen PR, Rosa RF, de Aguiar MJ, Haase VG. Carvalho MR, et al. Am J Med Genet A. 2014 Sep;164A(9):2256-62. doi: 10.1002/ajmg.a.36649. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989330
Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pre- and postnatal growth restriction; apparent hypotelorism, short/upslanting palpebral fissures; hypoplastic nasal alae; pointed chin and no …
Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pr …
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 …
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 …
Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.
Francke U, Kernahan C, Bradshaw C. Francke U, et al. Humangenetik. 1975;26(4):343-51. doi: 10.1007/BF00285386. Humangenetik. 1975. PMID: 1150232
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched p …
A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- …
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 …
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
Weiss G, Confino Y, Shemer A, Trau H. Weiss G, et al. J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. doi: 10.1111/j.1468-3083.2004.00365.x. J Eur Acad Dermatol Venereol. 2004. PMID: 15096145 Review.
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congeni …
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread kera …
Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.
Dignan PS, Martin LW, Zenni EJ Jr. Dignan PS, et al. Clin Genet. 1986 Feb;29(2):168-73. doi: 10.1111/j.1399-0004.1986.tb01244.x. Clin Genet. 1986. PMID: 3955870
A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and shor …
A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, po …