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From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC. Sprenger F, et al. Childs Nerv Syst. 2022 Jun;38(6):1189-1193. doi: 10.1007/s00381-021-05366-7. Epub 2021 Sep 29. Childs Nerv Syst. 2022. PMID: 34586492
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. ...Cerebral findings included polymicrogyria, subependymal nodular heteroto …
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of man …
Encephalocraniocutaneous lipomatosis: a new case report and review of the literature.
Romiti R, Rengifo JA, Arnone M, Sotto MN, Valente NY, Jansen T. Romiti R, et al. J Dermatol. 1999 Dec;26(12):808-12. doi: 10.1111/j.1346-8138.1999.tb02097.x. J Dermatol. 1999. PMID: 10659502 Review.
Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should be distinguished from other mosaic neurocutaneous phenotypes such as Proteus syndrome, oculocerebrocutaneous syndrome, and nevu …
Ocular anomalies and a variable degree of mental retardation with or without convulsions are usually observed. This disorder should b …
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. Giampietro PF, et al. Am J Med Genet A. 2004 Jan 15;124A(2):202-8. doi: 10.1002/ajmg.a.20377. Am J Med Genet A. 2004. PMID: 14699622
Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). ... …
Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linea …