Pseudohypoparathyroidism physical examination: Difference between revisions
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{{Pseudohypoparathyroidism}} | {{Pseudohypoparathyroidism}} | ||
{{CMG}}; {{AE}}{{Mazia}} | {{CMG}}; {{AE}}{{Mazia}} | ||
==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]]. | ||
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===Skin=== | ===Skin=== | ||
*[[Albright's hereditary osteodystrophy]]: | |||
[[Albright's hereditary osteodystrophy]]: Subcutaneous ossifications | **Subcutaneous ossifications | ||
**Obesity | |||
===HEENT=== | ===HEENT=== | ||
Acrodysostosis: Small, flat, upturned nose | *Acrodysostosis: | ||
**Small, flat, upturned nose | |||
Blomstrand's chondrodystrophy: | *Blomstrand's chondrodystrophy: | ||
* Protruding eyes showing cataracts | ** Protruding eyes showing cataracts | ||
* Facial anomalies like | ** Facial anomalies like | ||
** Macroglossia | ** Macroglossia | ||
** Micrognathia | ** Micrognathia | ||
** Depressed nasal bridge | ** Depressed nasal bridge | ||
*[[Albright's hereditary osteodystrophy]]: | |||
**Round face | |||
**Frontal bossing | |||
**Dental [[hypoplasia]] | |||
===Lungs=== | ===Lungs=== | ||
Blomstrand's chondrodystrophy: | *Blomstrand's chondrodystrophy: | ||
**Narrow thorax | |||
Narrow thorax | |||
===Genitourinary=== | ===Genitourinary=== | ||
Acrodysostosis: Hypoplastic genitalia | *Acrodysostosis: | ||
**Hypoplastic genitalia | |||
**[[Cryptorchidism]] | |||
===Extremities=== | ===Extremities=== | ||
Acrodysostosis :Short hands | *Acrodysostosis: | ||
**Short hands | |||
Blomstrand's chondrodystrophy: | *Blomstrand's chondrodystrophy: | ||
* Short limbs | **Short limbs | ||
* Dwarfism | **Dwarfism | ||
* | **advanced bone maturation in the fetus resulting in neonatal death | ||
* [[Albright's hereditary osteodystrophy]]:Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]] | * [[Albright's hereditary osteodystrophy]]: | ||
**Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]] | |||
===Neuromuscular=== | ===Neuromuscular=== | ||
[[Albright's hereditary osteodystrophy]]: Mild to moderate intellectual disability | *[[Albright's hereditary osteodystrophy]]: | ||
**Mild to moderate intellectual disability | |||
==References== | ==References== | ||
Revision as of 15:55, 17 October 2017
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Pseudohypoparathyroidism Microchapters |
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Differentiating Pseudohypoparathyroidism from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Pseudohypoparathyroidism physical examination On the Web |
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American Roentgen Ray Society Images of Pseudohypoparathyroidism physical examination |
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Risk calculators and risk factors for Pseudohypoparathyroidism physical examination |
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.
- Pseudohypoparathyroidism Type 1B is not associated with clinical features of Albright's osteodystrophy. Mild brachydactyly is seen in some cases.
Skin
- Albright's hereditary osteodystrophy:
- Subcutaneous ossifications
- Obesity
HEENT
- Acrodysostosis:
- Small, flat, upturned nose
- 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
- Blomstrand's chondrodystrophy:
- Narrow thorax
Genitourinary
- Acrodysostosis:
- Hypoplastic genitalia
- Cryptorchidism
Extremities
- Acrodysostosis:
- Short hands
- Blomstrand's chondrodystrophy:
- Short limbs
- Dwarfism
- advanced bone maturation in the fetus resulting in neonatal death
- Albright's hereditary osteodystrophy:
- Shortening of third, fourth, and fifth metacarpals and metatarsals
Neuromuscular
- Albright's hereditary osteodystrophy:
- Mild to moderate intellectual disability