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Quoted phrase not found in phrase index: "Recessive aplasia cutis congenita of limbs"
Page 1
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, e …
The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within …
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E. Martinez-Moreno A, et al. Pediatr Dermatol. 2020 Sep;37(5):821-826. doi: 10.1111/pde.14245. Epub 2020 Jul 20. Pediatr Dermatol. 2020. PMID: 32686866 Review.
RESULTS: After review, 55 articles were included, reporting 96 patients. CAS involved the lower extremities in all patients, with additional upper limb, trunk, or head involvement in 17%. ...The subtype and frequency of associated EB most frequently reported were recess …
RESULTS: After review, 55 articles were included, reporting 96 patients. CAS involved the lower extremities in all patients, with add …
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.
Diociaiuti A, Castiglia D, Giancristoforo S, Guerra L, Proto V, Dotta A, Boldrini R, Zambruno G, El Hachem M. Diociaiuti A, et al. Acta Derm Venereol. 2016 Aug 23;96(6):784-7. doi: 10.2340/00015555-2364. Acta Derm Venereol. 2016. PMID: 26864810 Free article.
Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragility within the first months of life, associated with typical immunofluorescence and ultrastructural features. Inheritance can be autosomal dom …
Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragilit …
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome.
Renfree KJ, Dell PC. Renfree KJ, et al. J Hand Surg Am. 2016 Jul;41(7):e207-10. doi: 10.1016/j.jhsa.2016.04.014. Epub 2016 May 10. J Hand Surg Am. 2016. PMID: 27178874
Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and scalp defects (aplasia cutis congenita). Broad phenotypic variability exists in this condition. ...Extremity involvement i …
Adams-Oliver syndrome is a rare congenital condition that should be considered in persons with terminal transverse limb deficiencies and sca …
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DO …
Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and …
Ellis-Van Creveld Syndrome in a Neonate.
Wahid S, Aslam S, Minhas S. Wahid S, et al. J Coll Physicians Surg Pak. 2018 Mar;28(3):S44-S45. doi: 10.29271/jcpsp.2018.03.S44. J Coll Physicians Surg Pak. 2018. PMID: 29482704
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. ...This syndrome has a constellation of characteristic features that include bilateral post-axial po …
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, …
Ellis-van Creveld syndrome: Report of a case and recurrent variant.
Eftekhariyazdi M, Meshkani M, Moslem A, Hakimi P, Safari S, Khaligh A, Zare-Abdollahi D. Eftekhariyazdi M, et al. J Gene Med. 2020 Jun;22(6):e3175. doi: 10.1002/jgm.3175. Epub 2020 Mar 17. J Gene Med. 2020. PMID: 32072716
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short stature, short limbs, short ribs, polydactyly and structural heart defect. ...In the present study, we report the prenatal findings a …
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short …
Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study.
Yaşar Ş, Yaşar B, Cebeci F, Bayoğlu D, Nuhoğlu Ç. Yaşar Ş, et al. J Wound Care. 2018 Nov 2;27(11):768-771. doi: 10.12968/jowc.2018.27.11.768. J Wound Care. 2018. PMID: 30398936
Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and nail dysplasia. ACC in DEB is thought to be caused by trauma, the most cited cause being …
Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullo …
Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
Alrayes N, Aziz A, Ullah F, Ishfaq M, Jelani M, Wali A. Alrayes N, et al. J Gene Med. 2020 Jan;22(1):e3143. doi: 10.1002/jgm.3143. Epub 2020 Jan 3. J Gene Med. 2020. PMID: 31750994
BACKGROUND: Syndactyly is a clinical feature of split-hand foot malformation (SHFM), ectodermal-dysplasia-syndactyly (EDSS1) and Cenani-Lenz syndactyly syndromes (CLSS). ...In SHFM, bony syndactyly may vary from hypoplasia of one phalanx to aplasia of central …
BACKGROUND: Syndactyly is a clinical feature of split-hand foot malformation (SHFM), ectodermal-dysplasia-syndactyly (EDSS1) a …
Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.
Li L, Liu C, Tian M, Li G, Li J. Li L, et al. BMC Pediatr. 2023 Aug 18;23(1):407. doi: 10.1186/s12887-023-04110-1. BMC Pediatr. 2023. PMID: 37596520 Free PMC article. Review.
BACKGROUND: WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED patients are commonly present with facial dysmorphisms (frontal bossing and low-set ears), sagittal craniosynostosis, growth retardation, doli …
BACKGROUND: WDR35 variants are known to cause a rare autosomal recessive disorder-Cranioectodermal dysplasia (CED). The CED pa …
35 results