She presented at our outpatient department complaining of lowback pain and difficulty walking. She had marked facial and peripheral appearance of acrodysostosis. Spinal MRI revealed extensive spinal stenosis. [ncbi.nlm.nih.gov]

[…] hair color Red head (hair color) [ more ] 0002297 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger Short finger bones 0009803 Strabismus [rarediseases.info.nih.gov]

nasal root [ more ] 0005280 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Epiphyseal stippling Speckled calcifications in end part of bone 0010655 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw [rarediseases.info.nih.gov]

In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. [ncbi.nlm.nih.gov]

delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dental malocclusion Bad bite Malalignment of upper and [rarediseases.info.nih.gov]

She became unable to walk, thereafter she underwent decompression surgery with a diagnosis of degenerative spinal stenosis. She presented at our outpatient department complaining of lowback pain and difficulty walking. [ncbi.nlm.nih.gov]

long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more [rarediseases.info.nih.gov]

Furthermore, there were no soft tissue calcifications and no intracranial calcification as can be seen in PH and PPH. Laboratory findings were normal. [ncbi.nlm.nih.gov]