Concluded Case

15 year old male came with URI symptoms...his appearance attracted my attention...At 1st sight I thought he was 8-10 year old...Fascial look more coarse and had mild acne..hit 137 cm 10 year equivalent wt 26 about 8year equavalent..HC52 cm.. Father says he has another daughter 17 year old who is also Short...

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Concluded answer
Hypochondroplasia
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Looking at his face..Adult looking face.. School kid like body..1stthing ran in my mind was acromegaly..If excessive GH was culprit He should be a Gaint...truely speaking Hypothyroidism did not come until I read your Comment...Father is a descent middle class muslim...Until today they have not explored the cause...Other older daughter is also like him...? Familial..Genetic?...Mucopolysachharoidosis Variant..?Any kid with short stature should have T3 T4 TSH should be routine..I agree.. Thanks for the comment.
Welcome sir
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Looking at this child some how I thought Looks old by head And arms shorter than fore arms..I did not bare him off his legs and thighs...some how they looke short..Trunk almost normal..Initially actomegalic fsce like appearence attracted my attention...body of infantile like did not make sense to think of Growth hormone..He should gave been a Gaint(Galigantism) He is still at pubertal age ..some acne over face..and some laxillary sparse hair and not small genitalia by any means.. GH defficiency did not strike my mind..even though MPS cross my mind..by fascial appearence..rest of the body was not helpful In seriously considering..MPS..Even though extermities looked Short by armsl snd thighs..Achondroplasia..was not on the top of my list..I did think of Bone age and Dental age evaluation.. As an out patient I did not do systematic exam..Today some how..My mind still thinks off Achondroplasia..His aheight was 137 cm..(Average height for Achondroplasia mentioned is 120 Cm..But may as as tall as ?142.Slowly my imagination of some thing familiar ..but not sure may be of A variant (A bit taller) Achondroplasia.?(No contribution from cartilage).I will keep You posted..with other findings as I come accross.. Thank you guys..It may be true...common things are common in medicine..presenting in some uncommmon way?
Just adding to my note..as I was mentioning average ht of adult achondro male or female is 120..and I wrote may be as tall as 142cm..It is mentioned it could be as tall as 148cm.. Dont you all think...he is not that short(130cm as many).. He could be category of taller(137cm)Achondroplastic. I yet to see his sister..who is also shares his physical looks and is short.
Chewing on this case for the past couple of days..Definitely it is not Typical Achondroplasia.. but certainly shares features of Achondroplasia..fascial feature certainly fits..with not so phenotypically Achondroplasia...So I impression is... Hypochondroplastic...if not pseudoschondroplastic...
Basic things to be done...1.US/LS Ratio 2.MPH 3.plot in growth chart 4.do SMR 5.Bone Age.
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Need to r/o hypothroidism.
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Take us ,la ratio
Thank you doctor
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Hypochondroplasia

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