heT nyndrgeilu nmcihamse is yuulals a olbrmpe ithw otnnvceeic esiuts ued to a calk of tpey I gcaoll.ne hsTi rsoccu ni meor htan %90 of sacse ued ot ottmuisna in the 11OCLA or COA21L sge.ne sheTe inteecg mbesprlo era eontf etnhriedi mfro a n'oresps ptanser in na maasoltuo tanniomd arnmen or occru vai a wne mntit.aou
acslliB,ay ogdo *gi**nf lku!c
TLDR: Physical symptoms >> family history or anything else.
Like the other guy said, I got played hard.
• poor prenatal care
• no family history
• bone problem/fractures
Instantly pointed to Rickets.
BUT, in retrospect this is key:
• intercostal retractions (vs. rachitic rosary → costchondral thickenings)
They're basically telling you to rule out Rickets. It seems 100% unfair b/c poor prenatal care seemed to rule in Rickets. The no family history seems to rule out OI.
But I guess what I've learned is, physical symptoms trump ANYTHING ELSE on NBMEs.
So once you're down to OI and Rickets think about the pathogenesis of the two diseases and ignore the rest of the stem for a second. Bone is basically two parts. A fibrous "rebar" part and a calcium "cement" part. OI has defective type 1 collagen leading to bones that have no problem mineralizing (cement) but are lacking the rebar. This leads to super brittle bones that break all the time. Like hundreds of fractures.
Vit D deficiency causes an inability to mineralize but has no problem with laying down the collagen or "rebar". As a result you get soft and bendy bones. Sure they can break but the main problem is lack of strength.
From there you pick OI because the kid has 1000 fractures. Rickets wouldn't present that way.
Also bonus buzzword: apparently "wormian appearance" is an important diagnostic clue for OI.
At ristf I aws kiintnhg a!ha hldCi beus!a utB I esugs miwnroa onsbe are mreo gvsseguite of ,IO ugtohalh teh no falmyi hx patr aws arehrt bel.h
How si sith het aernws if theer si on yfliam yihstor fo rrtuercne ?crtersfau I hhtotgu osseistegnoe fcmtpireae saw ooaamlsut mnido?tan
Would rickets present in a newborn? This article describing a case series says "There are few other published cases of congenital rickets caused by maternal VDD." So maybe rickets usually presents later in life. Mayo Clinic says it's usually after "an extreme and prolonged vitamin D deficiency."