Patients/methods: Two siblings (Pt-A and Pt-B; consanguineous parents) presented in early childhood with severe disproportionate short stature and radiological features of AMDM. Subsequent genetic testing identified a novel homozygous NPR2 mutation. [pubmed.ncbi.nlm.nih.gov]

• Disproportionate Short Stature

  Patients/methods: Two siblings (Pt-A and Pt-B; consanguineous parents) presented in early childhood with severe disproportionate short stature and radiological features of AMDM. Subsequent genetic testing identified a novel homozygous NPR2 mutation. [pubmed.ncbi.nlm.nih.gov]

  […] fingers or toes 0001156 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Disproportionate short stature 0003498 Dolichocephaly [rarediseases.info.nih.gov]

• Extension of Elbows Limited

  elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Long hallux Long big toe 0001847 Lower thoracic kyphosis [rarediseases.info.nih.gov]

• Short Nails

  […] metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short nail Short nails 0001799 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Thoracolumbar interpediculate narrowness 0008484 Thoracolumbar [rarediseases.info.nih.gov]

• Suggestibility

  Resistance to growth hormone (GH) action has previously been suggested. We describe outcomes of 2 siblings with AMDM after prolonged high-dose GH treatment. [pubmed.ncbi.nlm.nih.gov]

We describe outcomes of 2 siblings with AMDM after prolonged high-dose GH treatment. [pubmed.ncbi.nlm.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]