Pathology

1. Commonest form of disproportionate short stature with proximal shortening of long bones
2. Equally common in males and females
3. Genetics
   • AD with complete penetrances
   • 80% new mutations
   • Genes: Fibroblast growth factor 3 (FGFR-3) mapped to chromosome 4p16.3 

Approach

• Step back
• Talk systematically through physical appearance of patient

1. Inspection

   

   • Reduced height
   • Normal trunk size
   • Shorted extremities
   • Hands - short, broad, wedge shaped
   • Skull: - macrocephaly, frontal bossing, saddle nose, maxillary hypoplasia, mandibular prognathism (protrusion of jaw)
   • Spine: thoracolumarkyphosis, excessive lumbar lordosis
   • knees: genu varum
2. Palpation
3. Percussion
4. Auscultation

Completion

1. Take history
2. Assess effect on patients quality of life

Treatment options

1. Non-surgical
   • Subcutaenous human growth hormone to increase height
2. Surgical
   • Limb lengthening using distraction devices - correct body proportion and axial deviation
   • Regional specific: spinal, correct genu valgum