Would like to share an interesting and rare case that I encountered. This baby was term/AGA born with multiple skeletal defects. Consanguinity +. 2/4 prior siblings also affected. Identify this skeletal dysplasia.

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Thanatophoric Dwarfism. AD 2 types, lethal to life.

no skull or thoracic deformity....primarily limb anomalies....good try though....
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Vacterl association

no vertebral anomalies/tef echo wnl
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Rhizomelic Chondromalacia.

u mean rhizomelic chondrodysplasia punctata?? certainly not
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ollier's disease?

holt oram syndrome

short stumpy fingers may be Achondroplasiconfidential anomaly and xray shows bil cdh.

rhizomelic dysplasia...maybe achondroplasia

this is a kind of predominantly acromesomelic dwarfism....
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facto syndrome?

osteogenesis imperfecta

not at all....there are no fractures....
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desbuquois dysplasia??

no joint dislocations no hypotonia no significant facial dysmorphism....hence its not desbuquois dysplasia....
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