Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.
We report on a mentally retarded girl with dysmorphic facies (hypertelorism, upslanting palpebral fissures, blepharophimosis, prominent teeth), who suffered from juvenile-onset insulinopenic diabetes mellitus and lipodystrophy. She could represent an undescribed MCA/MR syndrome.
Verloes
A
A
Centre for Human Genetics, Liège University, La Citadelle Hospital, Belgium.
Ernould
C
C
Dubru
J M
JM
Malchair
R
R
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000503:physiopathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology*; D008060:Lipodystrophy / Q000503:physiopathology*; D013577:Syndrome