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1971 1
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12 results

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Page 1
Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.
Grauhan LD, Gericke A, Brueggemann FB, Pfeiffer N, Wasielica-Poslednik J. Grauhan LD, et al. Cornea. 2023 Sep 1;42(9):1172-1175. doi: 10.1097/ICO.0000000000003295. Epub 2023 Jun 21. Cornea. 2023. PMID: 37351863
PURPOSE: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. ...Allogeneic simple limbal epithelial transplantation (allo SLET), penetrating keratoplasty combined with allo SLET, and in total 5 amniotic membrane transplantation were performed …
PURPOSE: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. ...Allogeneic simple limbal epithelial tr …
Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, Aranda-Romo S, Alejandri-Gamboa V, Pozos-Guillén A. Garrocho-Rangel A, et al. Spec Care Dentist. 2023 Mar;43(2):152-162. doi: 10.1111/scd.12752. Epub 2022 Jul 25. Spec Care Dentist. 2023. PMID: 35879828 Review.
AIMS: EEC is a rare syndrome characterized by the triad of ectrodactyly, ectodermal dysplasia, and orofacial clefting, along with other clinical manifestations mainly in hair, skin, and teeth. ...
AIMS: EEC is a rare syndrome characterized by the triad of ectrodactyly, ectodermal dysplasia, and orofacial clefting, along with oth …
Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register.
O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J. O'Keefe D, et al. J Paediatr Child Health. 2022 Jan;58(1):122-128. doi: 10.1111/jpc.15673. Epub 2021 Aug 3. J Paediatr Child Health. 2022. PMID: 34343375
AIMS: Children with a congenital upper limb difference (CoULD) are a diverse group who often require multidisciplinary care and long-term support for functional and social impacts. The Australian Hand Difference Register (AHDR) provides a national database of children born …
AIMS: Children with a congenital upper limb difference (CoULD) are a diverse group who often require multidisciplinary care and long- …
Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.
Barbaro V, Bonelli F, Ferrari S, La Vella G, Di Iorio E. Barbaro V, et al. Cells. 2023 Feb 2;12(3):495. doi: 10.3390/cells12030495. Cells. 2023. PMID: 36766837 Free PMC article. Review.
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is caused by heterozygous missense point mutations in the p63 gene, an important transcription factor during embryogenesis and for stem cell differentiation in stratified epithelia. ...No definitive cures are curren …
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is caused by heterozygous missense point mutations in the p63 gene, an impo …
Twenty-four cases of the EEC syndrome: clinical presentation and management.
Buss PW, Hughes HE, Clarke A. Buss PW, et al. J Med Genet. 1995 Sep;32(9):716-23. doi: 10.1136/jmg.32.9.716. J Med Genet. 1995. PMID: 8544192 Free PMC article.
Developmentally, the EEC syndrome and related disorders represent disorders of ectodermal/mesodermal interaction. Candidate regions include 7q21.3, the "ectrodactyly" locus; other candidates include developmental genes implicated in the ectodermal/mesodermal interactive pr …
Developmentally, the EEC syndrome and related disorders represent disorders of ectodermal/mesodermal interaction. Candidate regions include …
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome.
Bronshtein M, Gershoni-Baruch R. Bronshtein M, et al. Prenat Diagn. 1993 Jun;13(6):519-22. doi: 10.1002/pd.1970130614. Prenat Diagn. 1993. PMID: 8372078
Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip a …
Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands a …
Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
Ryu JK, Cho JY, Choi JS. Ryu JK, et al. Korean J Radiol. 2003 Oct-Dec;4(4):243-51. doi: 10.3348/kjr.2003.4.4.243. Korean J Radiol. 2003. PMID: 14726642 Free PMC article.
Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases i …
Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care …
Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.
Fassihi H, Eady RA, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Denyer JE, Nicolaides KH, Rodeck CH, McGrath JA. Fassihi H, et al. Br J Dermatol. 2006 Jan;154(1):106-13. doi: 10.1111/j.1365-2133.2005.07012.x. Br J Dermatol. 2006. PMID: 16403102
Of the CVS procedures, 75 were for EB (40 junctional, 35 dystrophic) and one was for the EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome. Both of the PGD procedures were for the skin fragility-ectodermal dysplasia syndrome. ...
Of the CVS procedures, 75 were for EB (40 junctional, 35 dystrophic) and one was for the EEC (ectrodactyly, ectodermal dysplasia, cle …
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
Elliott AM, Evans JA. Elliott AM, et al. Am J Med Genet A. 2006 Jul 1;140(13):1419-27. doi: 10.1002/ajmg.a.31244. Am J Med Genet A. 2006. PMID: 16688749
Split hand foot malformation (SHFM) also known as central ray deficiency, ectrodactyly and cleft hand/foot, is one of the most complex of limb malformations. SHFM can occur as an isolated malformation or in association with other malformations, as in the ectrodactyly …
Split hand foot malformation (SHFM) also known as central ray deficiency, ectrodactyly and cleft hand/foot, is one of the most comple …
12 results