Syndromes

Question 1

You are working in ED and see a 6 yr old boy who presents with a left shoulder dislocation. History reveals mild short stature, dental abnormalities (retained deciduous and supernumery teeth), hypermobile shoulders + repeated ear infections.

On examination as well as a dislocated shoulder you note open anterior fontanelle, pes planus + scoliosis + dysmorphic features as pictured.

What syndrome does he have + what are the images showing?

Answer 1

Cleidocranial dysostosis

A, The forehead is bulky with a central depression, the eyes are widely spaced and the jaw is pointed. The clavicle is misshapen (arrow). B, Note patency of the anterior fontanelle. C, Hyperdontia pantomogram of an affected male showing supernumerary teeth.

• Features:
  
  • Drooping shoulders
  • Open fontanelles + prominent forehead
  • Mild short stature
  • Retained deciduous and supernumery teeth
  • Radiographs reveal hypoplastic or absent clavicles, delayed ossification of the cranial bones with multiple ossification centers (wormian bones), and delayed ossification of pelvic bones.
  • The anterior fontanelle is wide and might remain open.
• Diagnosis: based on clinical + radiographic presentations
• Management: prevention of ear infections, speech therapy, dental + ortho interventions

Question 2

Answer 2

Diagnosis: T13

Quickest test: FISH