Hydrocephalus and skeletal dysplasia
What is this syndrome? What are the causes🤔
Children with this condition can really suffer through it before dying. I have cared for some of them, it's so hard to watch. I'm glad this baby passed, there is no cure only Palliative care.
Looks like achondroplasia, but that's just a gut feeling. The torso is full-sized but the limbs seem shortened.
I think achondroplasia is alright but y is the baby having hydrocephalus means it seems to be result of kinda teratogen which is probably not known to us
That's a good question. Achondroplasia has been associated with hydrocephalus in the literature. It's a more severe complication. A possible reason is anything that misshapes the skull and changes the openings, such as that of foramen magnum can lead to it. Check the family history (although 80% of cases result from a new mutation). Only way to be sure is to test FGFR3 gene, although the facies looks characteristic in support of achondroplasia. A possible Dx is osteogenesis imprerfecta if the bones are fractured.
I was partially onto something, but you are on the money!! Thanks for teaching
