Extensive limb lengthening (ELL) was completed in 75 patients: 66 achondroplasia and 9 hypochondroplasia. The average 27 cm for (12–40 cm) 17 hypochondroplasia (range 10–25 cm). There were 48 females males. Lengthening done either by 2-segment (14 patients; both tibias and/or femurs) or 4-segment lengthenings (64 femurs at the same time). Most patients also had bilateral humeral lengthening. Pa...

Spinal stenosis can be a very disabling condition. Surgical decompression carries a risk of dural tear and neural injury, which is increased in patients with severe stenosis or an atypical anatomy. We present an unusual case of symptomatic stenosis secondary to achondroplasia presenting in a paediatric patient, and highlight a new surgical technique used to minimise the risk of dural and neural...

Caffey (1950) suggested the term 'congenital stippled epiphyses' for a syndrorm consisting of achondroplasia, radiologial evidence of discrete centres of calcification in cartilaginous epiphyses, together with cataracts and mental deficwiency. The condition was first described by Conradi (1914) under the title 'Chondrodystrophia Foetalis Hypoplastica', and was reviewed by Ford, Schneider and Br...

Here, we report the case of a male child with achondroplasia who was diagnosed with obstructive sleep apnea and underwent adenoidectomy and tonsillectomy. By analyzing lateral cephalograms, we evaluated the craniofacial and pharyngeal airway morphology immediately before surgery (age, 5 years 6 months) and 1 year 2 months after surgery (age, 6 years 8 months). Adenoidectomy and tonsillectomy di...

The role played by congenital malformations of the skull and spine in the production of lesions of the central nervous system has been increasingly appreciated in recent years. In the skull premature synostosis of the sutures of the vault (craniostenosis) can lead to optic atrophy and symptoms of intracranial hypertension. Hydrocephalus and compression of the brain stem and upper cervical cord ...

A point mutation, Gly380Arg, in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leads to achondroplasia, the most common form of genetic dwarfism in humans. This substitution was suggested to enhance mutant receptor dimerization, leading to constitutive, ligand-independent activation. We found that dimerization and activation of the G380R mutant receptor are predominantl...