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Quoted phrase not found in phrase index: "Mesomelic dwarfism-cleft palate-camptodactyly syndrome"
Page 1
Mesomelic skeletal dysplasias.
Kaitila I, Leisti JT, Rimoin DL. Kaitila I, et al. Clin Orthop Relat Res. 1976 Jan-Feb;(114):94-106. Clin Orthop Relat Res. 1976. PMID: 1261139
Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. ...The correct diagnosis is, however, important both for prognostication and accurate genetic counseling....
Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditar …
Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S. Tüysüz B, et al. Am J Med Genet. 2002 May 1;109(3):206-10. doi: 10.1002/ajmg.10283. Am J Med Genet. 2002. PMID: 11977180
We describe a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. The patient was considered as a case of Nievergelt syndrome, a rare form of mesomelic dysplasia. Besides the characteristic mesomelic …
We describe a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. The patient was …
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
Sezer A, Kayhan G, Zenker M, Percin EF. Sezer A, et al. Eur J Med Genet. 2019 Dec;62(12):103608. doi: 10.1016/j.ejmg.2018.12.013. Epub 2018 Dec 24. Eur J Med Genet. 2019. PMID: 30590172
Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth retardation, craniofacial anomalies, and symmetrical limb reduction defects. ...The slightly affected girl presented with mild symmetrical me …
Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth reta …
Prenatal diagnosis of Robinow syndrome: a case report.
Castro S, Peraza E, Barraza A, Zapata M. Castro S, et al. J Clin Ultrasound. 2014 Jun;42(5):297-300. doi: 10.1002/jcu.22103. Epub 2013 Oct 22. J Clin Ultrasound. 2014. PMID: 24151023
Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. ...Here we describe the sonographic characteristics of this …
Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by …
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature.
Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö. Gürsoy S, et al. J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):358-365. doi: 10.4274/jcrpe.galenos.2020.2019.0001. Epub 2020 Apr 16. J Clin Res Pediatr Endocrinol. 2020. PMID: 32295321 Free PMC article.
The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Leri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). ...
The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Leri-Weill dyschondr …
Heterozygous manifestations of Langer mesomelic dysplasia.
Goldblatt J, Wallis C, Viljoen D, Beighton P. Goldblatt J, et al. Clin Genet. 1987 Jan;31(1):19-24. doi: 10.1111/j.1399-0004.1987.tb02762.x. Clin Genet. 1987. PMID: 3568430
The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Lang …
The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and …
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S. Albuisson J, et al. Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x. Clin Genet. 2011. PMID: 20569257
Pre-axial polydactyly type II (PPDII, MIM #174500), Werner mesomelic syndrome (MIM %188770) and Haas polysyndactyly (MIM #186200) are a group of closely related conditions caused by mutations in a long-range Sonic hedgehog (SHH, MIM *600725) regulator called ZRS. .. …
Pre-axial polydactyly type II (PPDII, MIM #174500), Werner mesomelic syndrome (MIM %188770) and Haas polysyndactyly (MIM #1862 …
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, Carvalho CM. White J, et al. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817016 Free PMC article.
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative …
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and d …
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Vega H, et al. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259
BACKGROUND: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all othe …
BACKGROUND: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved …
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