Physical exam
The facial features revealed a narrow, anteroposteriorly elongated cranium (dolichocephaly) and leptoprosopic (elongated) face with malar hypoplasia (under development of the cheek bones), mandibular retrognathia (small lower jaw) and macrostomia (figure 2A). There was proptosis of the right eye, prominent eye ridges and no ophthalmoplegia. Beighton’s score was 8/10.
Intraoral examination revealed mild overcrowding of his dentition with good oral hygiene but a high-arched palate. (Figure 2C).
He had disproportionately long arms and legs (dolichostenomelia) with an arm span of 201 cm, a height of 182 cm and an index of 0.905. His fingers were long and spidery (arachnodactyly) (figure 1A), and Walker wrist sign and Steinberg thumb sign were positive (figure 1B and 1C (respectively). He was flat-footed with elongated toes (Figure 1F). There was mild swelling of the proximal and distal interphalangeal joints with no tenderness noted. Also noted was mild kyphoscoliosis of the thoracic spine, with a stooped posture. There was a prominent right-sided scapula with pectus carinatum (figure 2D).
The patient had a regular pulse at the time of the exam with an undisplaced apex beat and normal heart sounds but had a grade 2 mid-systolic murmur with no radiation. He had a normal respiratory, abdominal, and neurological exam.
Chest X-ray showed scoliosis and cardiomegaly (cardio-thoracic ratio of 0.76) with normal lung fields (figure 4) and the electrocardiogram showed sinus rhythm with high voltages and normal ST / T waves.