Pseudohypoparathyroidism physical examination: Difference between revisions
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*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. | *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: | *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 | **Short limbs | ||
**Dwarfism | **Dwarfism | ||
Revision as of 19:08, 3 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
- 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 osteodystrophy. Mild brachydactyly is seen in some cases.
- Blomstrand's chondrodystrophy presents with due to characteristic growth impairment and malformation that includes:[1]
- 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[2]
- Short hands;
- Small, flat, upturned nose;
- Mild to moderate intellectual disability.
- Hypoplastic genitalia
- Cryptorchidism
References
- ↑ Galera MF, de Silva Patrício FR, Lederman HM, Porciúncula CG, Lopes Monlleo I, Brunoni D (1999). "Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review". Pediatr Radiol. 29 (11): 842–5. doi:10.1007/s002470050709. PMID 10552065.
- ↑ Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL (1971). "Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation". Am. J. Dis. Child. 121 (3): 195–203. PMID 5551869.