Murch Oliver, Jain Vani, Offiah Amaka C
All Wales Medical Genomics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
Paediatric Musculoskeletal Imaging, Academic Unit of Child Health, University of Sheffield and Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH UK.
Radiol Case Rep. 2021 Jun 14;16(8):2240-2243. doi: 10.1016/j.radcr.2021.05.011. eCollection 2021 Aug.
Acromesomelic dysplasia, type Maroteaux is caused by variants in . It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in the first 2 years of life. Here we present an 11-year-old male with mild but typical skeletal features of acromesomelic dysplasia, type Maroteaux. Whole exome sequencing has identified two likely pathogenic variants in which have not previously been reported in individuals with acromesomelic dysplasia, type Maroteaux. Given these findings, a diagnosis of AMDM should be considered in individuals with characteristic radiological findings, even if stature is only modestly affected.
马罗托型肢端中胚层发育不良是由……中的变异引起的。它是一种严重的软骨发育异常，导致四肢中节和远节缩短。出生时肢体长度可能正常，但在生命的头两年生长减缓变得明显。在此，我们报告一名11岁男性，具有马罗托型肢端中胚层发育不良的轻度但典型骨骼特征。全外显子组测序在……中鉴定出两个可能的致病变异，这些变异此前在马罗托型肢端中胚层发育不良患者中尚未有报道。基于这些发现，即使身高仅受到轻微影响，对于具有特征性影像学表现的个体也应考虑诊断为肢端中胚层发育不良马罗托型（AMDM）。
