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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 cr …
The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rot …
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 hea …
The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpeb …
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M. Hamilton MJ, et al. J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11. J Med Genet. 2018. PMID: 29021403 Free PMC article.
All had craniofacial dysmorphism, with common features including short, upslanting palpebral fissures, hypertelorism or telecanthus, medial epicanthic folds, low-set, posteriorly rotated ears and a small mouth with thin upper lip vermilion. Fift …
All had craniofacial dysmorphism, with common features including short, upslanting palpebral fissures, hypertelorism or telecanthus, medial …
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 …
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fi …
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.
Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B. Battaglia A, et al. Am J Med Genet A. 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847. Am J Med Genet A. 2009. PMID: 19449418
She was referred to us at age 3 10/12 years for evaluation of DD and absent speech. On examination, there were a flat face; low-set, posteriorly rotated ears; high-arched palate; hypotonic face; right single palmar crease; long, thin fingers; an …
She was referred to us at age 3 10/12 years for evaluation of DD and absent speech. On examination, there were a flat face; low-se …
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH. Abdel-Salam GM, et al. Am J Med Genet A. 2014 Feb;164A(2):480-3. doi: 10.1002/ajmg.a.36276. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311025
Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal we …
Ventriculomegaly, agenesis of septum pellucidum, very thin corpus callosum with interhemispheric cyst were additional neuroimaging findings. …
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.
Fryns JP, Moerman P. Fryns JP, et al. J Med Genet. 1988 Jul;25(7):498-9. doi: 10.1136/jmg.25.7.498. J Med Genet. 1988. PMID: 3172145 Free PMC article.
In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenita …
In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (microcephaly, blepharophimosis …