Presentation
All probands presented with clinical features typical of AMDM including severe growth failure (−5.5 SD and −7 SD) (fig 1A). [jmg.bmj.com]
Dislocations of the elbows and ankles were present in all three patients and dislocations of the hips and knees in two. [pubmed.ncbi.nlm.nih.gov]
Musculoskeletal
- Decrease in Height
The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. [jmg.bmj.com]
Psychiatrical
- Suggestibility
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It is worth remembering that the existence of mild AMDM was suggested by Borrelli et al,14 who described a boy moderately affected with AMDM with a birth length of 50 cm and a growth pattern of −2.6 SD at the age of 2½ years. [jmg.bmj.com]
However, radiological analysis suggests that while acromesomelic dysplasia, Hunter-Thompson type and Grebe chondrodysplasia are related, they are not identical. Grebe chondrodysplasia has been established as an autosomal recessive trait. [pubmed.ncbi.nlm.nih.gov]
Treatment
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National Center for Advancing Translational Sciences Home Browse by Disease Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Dysplasia Hunter Thompson Type About the Disease Diagnosis & Treatment Living with the Disease Research Disease at a [rarediseases.info.nih.gov]