Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

摘要

Radiological findings. Upper panel ( - ) shows early postnatal plain radiographs (Day 12) and lower panel ( - ) shows corresponding post-mortem plain radiographs. Bone density is considerably less in each upper panel image compared with lower images (skull and , chest and , upper limb and , lower limb and ). Chest X-rays ( and ): thoracic size is extremely reduced ( ), to a lesser degree post-mortem ( ), which also shows broad and more calcified ribs, although with irregularities posteriorly and laterally consistent with healed fractures. Upper limb: early postnatal imaging ( ) shows ill-defined metaphyses; then ( ) more sharply defined metaphyses, prominent growth restart lines in diaphyses and bone-in-bone appearance. Lower limb: shows initial poorly defined metaphyses, reduced bone density and metaphyseal fractures; then H shows healed fractures, better metaphyseal delineation, prominent growth restart lines in diaphyses and bone-in-bone appearance