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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1974 2
1975 1
1976 1
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2013 2
2024 0

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Page 1
Acrodysostosis associated with hypercalcemia.
Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F. Kirnap M, et al. Hormones (Athens). 2013 Apr-Jun;12(2):309-11. doi: 10.14310/horm.2002.1416. Hormones (Athens). 2013. PMID: 23933701 Free article.
X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. ...
X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral …
Peripheral dysostosis.
Singleton EB, Siggers DC. Singleton EB, et al. Birth Defects Orig Artic Ser. 1974;10(12):510-12. Birth Defects Orig Artic Ser. 1974. PMID: 4461086 No abstract available.
Adult case of acrodysostosis with severe neurologic involvement.
Sezer N, Sutbeyaz ST, Koseoglu F, Aras M, Akin C. Sezer N, et al. J Back Musculoskelet Rehabil. 2009;22(2):125-9. doi: 10.3233/BMR-2009-0223. J Back Musculoskelet Rehabil. 2009. PMID: 20023341
OBJECTIVE: Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental retardation. ...
OBJECTIVE: Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental re …
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Muhn F, et al. Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21. Clin Genet. 2013. PMID: 23425300
Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. ...
Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and devel …
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.
Ablow RC, Hsia YE, Brandt IK. Ablow RC, et al. AJR Am J Roentgenol. 1977 Jan;128(1):95-9. doi: 10.2214/ajr.128.1.95. AJR Am J Roentgenol. 1977. PMID: 188348
Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. ...
Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pu …
Acrodysostosis: autosomal dominant transmission.
Sheela SR, Perti A, Thomas G. Sheela SR, et al. Indian Pediatr. 2005 Aug;42(8):822-6. Indian Pediatr. 2005. PMID: 16141486 Free article.
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. ...
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (g …
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.
Butler MG, Rames LJ, Wadlington WB. Butler MG, et al. Am J Med Genet. 1988 Aug;30(4):971-80. doi: 10.1002/ajmg.1320300416. Am J Med Genet. 1988. PMID: 3055990 Free PMC article. Review.
The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal ma …
The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral …
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing.
Reiter S. Reiter S. Pediatr Radiol. 1978 Apr 10;7(1):53-5. doi: 10.1007/BF00975340. Pediatr Radiol. 1978. PMID: 643365
Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome) and impaired hearing. The differential diagnosis includes pseudo (PH)--and pseudo-pseudohypo …
Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasa …
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.
Giedion A. Giedion A. Pediatr Radiol. 1979 Feb 26;8(1):32-8. doi: 10.1007/BF00973675. Pediatr Radiol. 1979. PMID: 431989
Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis combined with dwarfism. The striking similarity of the PhCSEH formula in our eight cases and of some cases of ATD, all suffering from chronic …
Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis c …
15 results