A 5-month-old boy was referred by a community pediatrician to clinical genetics at our facility
for short stature and macrocephaly. His delivery had been normal, although his parents had …

Objective Foramen magnum (FM) stenosis can be responsible for acute and chronic
damage to the cervicomedullary junction in children with achondroplasia. The bony anatomy …

Achondroplasia is associated with foramen magnum stenosis. We report a male infant with
achondroplasia and centrally mediated obstructive apnoea who underwent two foramen …

Achondroplasia has a known association with foramen magnum stenosis that can result in
cervicomedullary compression, which is most often due to a hypertrophied posterior occipital …

Achondroplasia is the most common form of dwarfism, caused by a mutation in fibroblast
growth factor receptor 3 gene, leading to multiple pathological conditions. Herein, we …

Thank you for the opportunity to respond to Dr. Pauli's letter. Both my co-authors and I are
indebted to the seminal work of Dr. Pauli on the issue of foramen magnum stenosis in infants …

Sleep-disordered breathing (SDB) is a frequently recognized comorbidity in infants and
children with achondroplasia due to alterations in craniofacial and upper airway anatomy …

Foramen magnum stenosis is a serious, and potentially life-threatening complication of
achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared …

Children with achondroplasia have midface hypoplasia, frontal bossing, spinal stenosis,
rhizomelia, and a small foramen magnum. Central sleep apnea, with potential resultant …

Background Achondroplasia is associated with foramen magnum stenosis (FMS) and
significant risk of morbidity and sudden death in infants. A sensitive and reliable method of …