Macrodystrophia lipomatosa bei einem lipofibromatösen Hamartom des Nervus medianus.
Ganss F, Roß C, Theurer R, Zorger N.
Rofo. 2020 Feb;192(2):188-189. doi: 10.1055/a-0998-4348. Epub 2019 Sep 11.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP.
JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097.
Macrodystrophia Lipomatosa.
Willenbrink T, Thelin L, Connor G, Diaz L.
Pediatr Dermatol. 2017 Sep;34(5):e292-e293. doi: 10.1111/pde.13232.
Lipomatosis of Nerve: More than a Focal Distal Disease.
Wehrli L, Saheb-Al-Zamani M, Khanna M, Lax MJ, Anastakis DJ.
Plast Reconstr Surg. 2018 Jul;142(1):148-151. doi: 10.1097/PRS.0000000000004455.
Congenital difference of the hand and foot: Pediatric macrodactyly.
Shen XF, Gasteratos K, Spyropoulou GA, Yin F, Rui YJ.
J Plast Reconstr Aesthet Surg. 2022 Nov;75(11):4054-4062. doi: 10.1016/j.bjps.2022.06.059. Epub 2022 Jul 27.
Epidural Lipomatosis and Syringomyelia in Adulthood: Case Report and Literature Review.
Sáez-Alegre M, Pérez López C, Giner García J, Junnior Palpán Flores A, García Feijoo P, Vivancos Sánchez C, Isla Guerrero A.
World Neurosurg. 2019 Sep;129:341-344. doi: 10.1016/j.wneu.2019.06.075. Epub 2019 Jun 20.
A rare case of a giant retroperitoneal lipoma with multiple limb and trunk lipomata without familial multiple lipomatosis.
Laurens JR, Frankel AJ, Smithers BM, Strutton G.
J Surg Case Rep. 2022 Mar 26;2022(3):rjac121. doi: 10.1093/jscr/rjac121. eCollection 2022 Mar.
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA.
Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24.
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA.
BMC Med Genet. 2018 Sep 4;19(1):158. doi: 10.1186/s12881-018-0672-z.
Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB, Link DC, Mason PJ, Bessler M.
Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3.
