this lady has a short stature.
what is your diagnosis?
what this disorder due to?
what other features might be present?
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I think she has also short 4th ans 5th finger>>>> Hypoparathyrodism. It may psudo type or AD type in it short stature, roun face, obisity and hypocalcimai (carpopedal spasme). psodo hypopth>>> efect in PTH secretion.Psudo psudo type phynotypical similaR BUT NORMAL CALCIUM
ReplyDeletelady with short stature and absent 4th & 5th metacarapls:
ReplyDelete1. Turner`s syndrome
2. Noonan`s syndrome
3. Pseudohypoparathyroidism
4. Pseudopsuedohypoparathyroidism
Diff dx:
ReplyDelete1. Phenotype of Turner vs Noonan
- take hx of period, fertility (Noonan can procreate)
- features: high arch palate, webbed neck, low hairline, short arm span, wide-spaced nipple
- CVS - noonan - right-sided cardiac lesion eg pulmonary stenosis, TR
Turner - left sided cardiac lesion: AS, coarctation,ASD
- check IQ
2. pseudopseudohypoparathyroidism