Pseudohypoparathyroidism physical examination
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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
Physical Examination
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)
- For an example of the appearance of a patient section in the physical examination page, click here.
Vital Signs
Skin
HEENT
Neck
Lungs
Heart
Abdomen
Back
Genitourinary
Extremities
Neuromuscular
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.