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Quoted phrase not found in phrase index: "Ectodermal dysplasia with intellectual disability and syndactyly"
Page 1
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.
Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P. Castori M, et al. Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708316
In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. ...Marked …
In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual …
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.
Elhamouly Y, Dowidar KM. Elhamouly Y, et al. Spec Care Dentist. 2019 Mar;39(2):236-240. doi: 10.1111/scd.12364. Epub 2019 Feb 5. Spec Care Dentist. 2019. PMID: 30720215
Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in autosomal dominant manner or as a de novo transfiguration. It is characterized by a triad of ectodermal dysplasia, ectrodactyly, a …
Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in auto …
Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.
Sathishkumar D, Ogboli M, Moss C. Sathishkumar D, et al. Clin Exp Dermatol. 2020 Dec;45(8):994-1002. doi: 10.1111/ced.14331. Epub 2020 Jul 18. Clin Exp Dermatol. 2020. PMID: 32501579
Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate-ectodermal dysplasia 1 syndrome. CONCLUSION: We conclude that the Frieden classification remains valid with some modifications. . …
Two children did not fit Frieden's original classification and one had a previously undescribed association of ACC with cleft lip/palate- …
TP63-related disorders: two case reports and a brief review of the literature.
Nanda A, AlLafi A, Wolf S, AlMasry IM, Betz R. Nanda A, et al. Dermatol Online J. 2021 Nov 15;27(11). doi: 10.5070/D3271156088. Dermatol Online J. 2021. PMID: 35130400 Review.
The present report describes the identification of heterozygous de novo pathogenic variants in the DNA binding domain (DBD) of the TP63 gene in two patients diagnosed with Ectodermal dysplasia-Ectrodactyly-Cleft lip/palate syndrome three (EEC3) and Ankyloblepharon- …
The present report describes the identification of heterozygous de novo pathogenic variants in the DNA binding domain (DBD) of the TP63 gene …
A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.
Argenziano G, Monsurrò MR, Pazienza R, Delfino M. Argenziano G, et al. J Am Acad Dermatol. 1998 Feb;38(2 Pt 2):344-8. doi: 10.1016/s0190-9622(98)70580-8. J Am Acad Dermatol. 1998. PMID: 9486713 Review.
We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. ...Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We con …
We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a …
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J. Zannolli R, et al. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642
A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia, (3) osteopenia, and (4) mental delay. ...
A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features …
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E. Prontera P, et al. Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990121
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary sy …
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP6 …
Mental retardation, hypotrichosis and syndactyly: a new entity?
Lopes VL, Marques-De-Faria AP. Lopes VL, et al. Genet Couns. 1996;7(1):47-51. Genet Couns. 1996. PMID: 8652088
We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly of hands. One sister, who died at four month of age, probably was also affected. ...
We have studied a boy with a particular clinical picture of mental retardation, hypotrichosis, early eruption of teeth, and syndactyly …