The Keutel syndrome (MIM 245150) is a rare autosomal recessive disorder, with only 13 patients reported thus far [reviewed by Teebi et al., 1998]. The recent identification of mutations in the calciumbinding matrix Gla protein in individuals with the Keutel syndrome has shed new light on the pathogenesis of this disorder [Munroe et al., 1998]. Because no clinical data are available on adults with this condition, we want to report the findings at long-term followup on a patient.
In 1984, Fryns et al. reported a 13-year-old girl with Keutel syndrome, presenting with pulmonary stenosis with ventricular septal defect, mild mental retardation, soft tissue calcifications, abnormal facial form, brachytelephalangy, and hearing loss. She was reexamined at 27 years, representing the oldest patient on whom clinical data are present, and this revealed new findings. Final height was 145 cm, weight 40 kg (both below 3rd centile), and head circumference 51.8 cm (10th centile for height). Hand length was 17.5 cm, middle finger length 7.3 cm. There was brachytelephalangy. She had a flat nose, caused by a deficient nasal cartilage development (Fig. 1), and maxillary hypoplasia. The ears had become more flattened, and are pain-