Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.
Devriendt
K
K
Centre for Human Genetics, University Hospital Leuven, Belgium.
Keymolen
K
K
Roelen
L
L
Van Goethem
G
G
Meireleire
J
J
Fryns
J P
JP
D000328:Adult; D001827:Body Height; D005147:Facial Bones / Q000002:abnormalities*; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D010641:Phenotype