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Table 2 Analysed cases for LipoDDX® validation

From: LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

CaseDiagnosisReference
#1Type 2 Familial Partial LipodystrophyOwn case
#2Acquired Generalized LipodystrophyOwn case
#3Acquired Partial LipodystrophyOwn case
#4Type 6 Familial Partial LipodystrophyRef.# [6]
#5Keppen-Lubinsky syndromeRef.# [10]
#6Type 3 Familial Partial LipodystrophyRef.# [11]
#7Lipodystrophy associated with hematopoietic stem cell transplantOwn case
#8Progressive Encephalopathy with/without lipodystrophyOwn case
#9Type 2 congenital generalized lipodystrophyOwn case
#10Type 1 congenital generalized lipodystrophyOwn case
#11Marfan syndrome with neonatal progeroid –like lipodystrophyRef.# [12]
#12Type 6 Familial Partial LipodystrophyRef.# [6]
#13PRAAS1Ref.# [13]
#14SHORT syndromeOwn case
#15MDPL syndromeRef.# [14]
#16ThyrotoxicosisOwn case
#17Werner syndromeOwn case
#18Keppen-Lubinsky syndromeRef.# [10]
#19Type 3 Familial Partial LipodystrophyRef.# [15]
#20Type 4 Familial Partial LipodystrophyRef.# [16]
#22Anorexia nervosaRef.# [17]
#23Localized lipodystrophyOwn case
#24Cockayne syndromeRef.# [18]
#25Type 5 Familial Partial LipodystrophyRef.# [19]
#26Acquired Generalized LipodystrophyOwn case
#27Type 2 Familial Partial LipodystrophyOwn case
#28MFN2 associated FPLDRef.# [7]
#29Type 4 congenital generalized lipodystrophyRef.# [20]
#30Néstor-Guillermo progeria syndromeRef.# [21]
#31Acquired Partial LipodystrophyOwn case
#32Atypical progeroid syndromeOwn case
#33Mental disorderOwn case
#34Hutchinson-Gilford progeria syndromeOwn case
#35Type 1 congenital generalized lipodystrophyOwn case
#36ADRA2A associated FPLDRef.# [5]
#37Fontaine progeroid syndromeRef.# [22]
#38Type A mandibuloacral dysplasiaRef.# [23]
#39Wiedemann Rautenstrauch syndromeRef.# [24]
#40Type 1 Familial Partial LipodystrophyOwn case