Abstract
Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia.
The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome
by homozygous mapping and pathogenic mutation was later identified in natriuretic
receptor B (NPR-B) which has been implicated in the regulation of skeletal growth.
Till now, around 40 to 50 cases of AMDM have been described in the world literature.
Association of the congenital craniovertebral (CV) junction anomaly has not been reported.
Here we are presenting a case of AMDM, with CV junction anomaly. A 10-year boy presented
with short stature (122 cm) with short distal limbs, symptomatic for thoracic kyphoscoliosis
with back pain. On examination there were no neurological deficits. On radiological
investigation, he was found to have short and broad phalanges and toes, thoracic kyphoscoliosis,
abnormal pelvic ring, mild ventriculomegaly, cervical syringomyelia and tonsillar
descent below foramen magnum, hydrocephalus, os odontoideum with Klippel-Feil anomaly.
This was diagnosed as AMDM with congenital os odontoideum, Klippel-Feil anomaly with
Arnold-Chiari malformation (ACM) type-1. The patient underwent posterior fossa decompression
by removal of foramen magnum ring along with C1 arch for ACM type-1. Kyphosis was
left for conservative treatment till further observation and required orthopedic correction
in his further age. To the best of our knowledge this is a very rare entity of AMDM
with congenital CV junction anomaly.
Key words
Acromesomyelia - craniovertebral junction - marotaeux variant - surgery
