A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity.
We report follow-up from birth up to 16 years of age of a patient with a previously undescribed combination of dysmorphic features. These include: intrauterine growth retardation developing to normal adult stature with truncal obesity, asymmetry of the midface skeleton with severe orthodontic problems, brachydactyly of the hands and feet, wide medial phalanges of the fingers, partial soft tissue syndactyly, simian creases and normal mental development. We consider other differential diagnoses and suggest that the patient represents a hitherto undescribed syndrome.
Kajantie
E
E
Hospital for Children and Adolescents, Helsinki University Central Hospital, Finland. Eero.Kajantie@hus.fi
Pirinen
S
S
Tommiska
V
V
Kaitila
I
I
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009765:Obesity / Q000473:pathology*; D013577:Syndrome