Pseudohypoparathyroidism physical examination: Difference between revisions

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==Overview==
==Overview==
Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]].Pseudohypoparathyroidism Type 1B isolated resistance to [[parathyroid hormone]] without the associated clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]. Mild [[brachydactyly]] is seen in some cases.Blomstrand's chondrodystrophy presents with short limbs due to characteristic growth impairment.Secondary [[hyperplasia]] of the [[parathyroid glands]] occurs as a result of associated [[hypocalcemia]].
Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]].Pseudohypoparathyroidism Type 1B isolated resistance to [[parathyroid hormone]] without the associated clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]. Mild [[brachydactyly]] is seen in some cases.Blomstrand's chondrodystrophy presents with short limbs due to characteristic growth impairment.Secondary [[hyperplasia]] of the [[parathyroid glands]] occurs as a result of associated [[hypocalcemia]].
==Physical Examination==
*Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]] like:
**Subcutaneous ossifications 
**Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]]
**Round face
**Obesity
**Frontal bossing
**Dental [[hypoplasia]] 
*Pseudohypoparathyroidism Type 1B isolated resistance to [[parathyroid hormone]] without the associated clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]. Mild [[brachydactyly]] is seen in some cases.
*Blomstrand's chondrodystrophy presents with  due to characteristic growth impairment and malformation that includes:<ref name="pmid10552065">{{cite journal |vauthors=Galera MF, de Silva Patrício FR, Lederman HM, Porciúncula CG, Lopes Monlleo I, Brunoni D |title=Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review |journal=Pediatr Radiol |volume=29 |issue=11 |pages=842–5 |year=1999 |pmid=10552065 |doi=10.1007/s002470050709 |url=}}</ref>
**Short limbs
**Dwarfism
**Narrow thorax
**Facial anomalies  like
***Macroglossia
***Micrognathia
***Depressed nasal bridge
**Polyhydramnios
**Hydrops fetalis
**Hypoplastic lungs
**Protruding eyes showing cataracts
**Internal malformations such as preductal aortic coarctation
**Secondary [[hyperplasia]] of the [[parathyroid glands]] occurs as a result of associated [[hypocalcemia]]
**Increased bone mineral density and advanced bone maturation in the fetues resulting in neonatal death
*Acrodysostosis characteristic physical findings include<ref name="pmid5551869">{{cite journal |vauthors=Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL |title=Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation |journal=Am. J. Dis. Child. |volume=121 |issue=3 |pages=195–203 |year=1971 |pmid=5551869 |doi= |url=}}</ref>
**Short hands;
**Small, flat, upturned nose;
**Mild to moderate intellectual disability.
**Hypoplastic genitalia
**[[Cryptorchidism]]


==Physical Examination==
==Physical Examination==
===Appearance of the Patient===
===Appearance of the Patient===
*You may include a physical description such as obese, thin, cachectic, ill appearing, diaphoretic etc. Mention in which cases these findings are present (e.g. well-appearing in early stages of cancer, cachectic in late stage cancer)
* Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]].
* For an example of the appearance of a patient section in the physical examination page, click [[Stomach cancer physical examination|here]].
 
===Vital Signs===


* Pseudohypoparathyroidism Type 1B isolated resistance to [[parathyroid hormone]] without the associated clinical features of [[Albright's hereditary osteodystrophy|Albright's osteodystrophy]]. Mild [[brachydactyly]] is seen in some cases.


===Skin===
===Skin===


 
[[Albright's hereditary osteodystrophy]]: Subcutaneous ossifications, Obesity
===HEENT===
===HEENT===
Acrodysostosis: Small, flat, upturned nose


===Neck===
Blomstrand's chondrodystrophy:
* Protruding eyes showing cataracts
* Facial anomalies like
** Macroglossia
** Micrognathia
** Depressed nasal bridge
** [[Albright's hereditary osteodystrophy]]: Round face, Frontal bossing, Dental [[hypoplasia]]


===Lungs===
===Lungs===
Blomstrand's chondrodystrophy:


===Heart===
Narrow thorax,
 
* Hydrops fetalis


===Abdomen===
===Abdomen===
 
Blomstrand's chondrodystrophy:Polyhydramnios
 
===Back===




===Genitourinary===
===Genitourinary===
Acrodysostosis: Hypoplastic genitalia,  [[Cryptorchidism]]




===Extremities===
===Extremities===
Acrodysostosis :Short hands
Blomstrand's chondrodystrophy:
* Short limbs
* Dwarfism
* Increased bone mineral density and advanced bone maturation in the fetues resulting in neonatal death
* [[Albright's hereditary osteodystrophy]]:Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]]


===Neuromuscular===
===Neuromuscular===
[[Albright's hereditary osteodystrophy]]: Mild to moderate intellectual disability


==References==
==References==

Revision as of 15:44, 17 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]


Overview

Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy.Pseudohypoparathyroidism Type 1B isolated resistance to parathyroid hormone without the associated clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases.Blomstrand's chondrodystrophy presents with short limbs due to characteristic growth impairment.Secondary hyperplasia of the parathyroid glands occurs as a result of associated hypocalcemia.

Physical Examination

Appearance of the Patient

  • Patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism presents by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy.

Skin

Albright's hereditary osteodystrophy: Subcutaneous ossifications, Obesity

HEENT

Acrodysostosis: Small, flat, upturned nose

Blomstrand's chondrodystrophy:

Lungs

Blomstrand's chondrodystrophy:

Narrow thorax,

  • Hydrops fetalis

Abdomen

Blomstrand's chondrodystrophy:Polyhydramnios


Genitourinary

Acrodysostosis: Hypoplastic genitalia, Cryptorchidism


Extremities

Acrodysostosis :Short hands

Blomstrand's chondrodystrophy:

Neuromuscular

Albright's hereditary osteodystrophy: Mild to moderate intellectual disability

References


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