Fetopathology and developmental pathology of the embryo and fetus: Thanatophoric dysplasia

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+ Thanatophoric dysplasia

+ Diastrophic dysplasia

+ Abnormalities of density of cortical diaphyseal structure or metaphyseal modeling

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Thanatophoric dysplasia

Introduction

The most common form of lethal skeletal dysplasia.
The name is derived from Greek thanatos (death) and phorus (seeking).

Etiology, pathogenesis

mutations of the fibroblastic growth factor 3 (FGFR3)
mutations of the same gen were also identified in achondroplasia and hypochondroplasia which are compatible with normal survival
sporadic dominant mutations (AD)

thanatophoric dysplasia common type
thanatophoric dysplasia with cloverleaf skull: generalized skeletal dysplasia identical to the common form and a craniosynostosis with abnormal skull configuration, severe hydrocephalus is present

Clinical signs

stillbirth
death at birth or early after birth due to respiratory insufficiency

Macroscopic appearance

relatively large head
short limbs (micromelia)
narrow thorax
RTG: severe platyspondyly, short ribs, bowing of the shortened femurs (telephone receiver femur)

Pictures

Thanatophoric dysplasia, brain: Thanatophoric dysplasia, brain, Macro, autopsy (74440) Thanatophoric dysplasia, brain, Macro, autopsy (74441) Thanatophoric dysplasia, brain, Macro, autopsy (74442) Thanatophoric dysplasia, brain, Macro, autopsy (74443) Thanatophoric dysplasia, brain, Macro, autopsy (74444) Thanatophoric dysplasia, brain, Macro, autopsy (74445) Thanatophoric dysplasia, brain, Macro, autopsy (74446) Thanatophoric dysplasia, brain, Macro, autopsy (74447)

Thanatophoric dysplasia: Thanatophoric dysplasia, Macro, autopsy (73730)

Histology

Severely disturbed enchondral ossification.