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Page 1
Cone-shaped epiphysis.
Durmus O, Cakar E, Ata E, Dincer U, Kiralp MZ. Durmus O, et al. Am J Phys Med Rehabil. 2014 Jan;93(1):92-3. doi: 10.1097/PHM.0b013e3182644034. Am J Phys Med Rehabil. 2014. PMID: 22854906 No abstract available.
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
The phalangeal cone shaped epiphysis of the hands (PhCSEH) observed in the extended Saldino-Mainzer syndrome (SMS), including nephronophthisis, are typed in accordance with standard tables. ...
The phalangeal cone shaped epiphysis of the hands (PhCSEH) observed in the extended Saldino-Mainzer syndrome (SMS), inc …
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
Montolío-Marzo S, Català-Mora J, Madrid-Aris Á, Armstrong J, Díaz-Carcajosa J, Carreras E. Montolío-Marzo S, et al. Eur J Med Genet. 2020 Dec;63(12):104073. doi: 10.1016/j.ejmg.2020.104073. Epub 2020 Sep 28. Eur J Med Genet. 2020. PMID: 33002628
Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. Short stature, cerebellar ataxia and hepa …
Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) s …
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 (gross shortenin …
Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.
Öztürk N, Karamık G, Mutlu H, Bayer ÖY, Mıhçı E, Çetin GO, Nur B. Öztürk N, et al. Turk J Pediatr. 2023;65(1):81-95. doi: 10.24953/turkjped.2022.793. Turk J Pediatr. 2023. PMID: 36866988 Free article.
Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was detected in two patients. Skeletal X-ray imaging revealed cone-shaped epiphysis of the phalanges in all, and multiple ex …
Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was d …
Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly.
Yucel A, Kuru I, Bozan ME, Acar M, Solak M. Yucel A, et al. Skeletal Radiol. 2005 Aug;34(8):468-76. doi: 10.1007/s00256-005-0928-5. Epub 2005 Jun 10. Skeletal Radiol. 2005. PMID: 15947976
Six unusual bone formations were observed in the hands and feet: delta phalanx, delta metacarpal/metatarsal, kissing delta phalanx, true double epiphysis, pseudoepiphysis and cone-shaped epiphysis. There were major differences in radiological and clinical man …
Six unusual bone formations were observed in the hands and feet: delta phalanx, delta metacarpal/metatarsal, kissing delta phalanx, true dou …
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.
Armour CM, Humphreys P, Hennekam RC, Boycott KM. Armour CM, et al. Am J Med Genet A. 2009 Oct;149A(10):2254-7. doi: 10.1002/ajmg.a.33003. Am J Med Genet A. 2009. PMID: 19760657
Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. ...
Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparen …
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.
Beals RK, Weleber RG. Beals RK, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. Am J Med Genet A. 2007. PMID: 17853467
Conorenal dysplasia is a rare syndrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. ...
Conorenal dysplasia is a rare syndrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigm …