Literature DB >> 6023894

Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.

J Caffey.   

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Year:  1967        PMID： 6023894     DOI： 10.2214/ajr.100.1.1

Source DB:  PubMed          Journal:  Am J Roentgenol Radium Ther Nucl Med        ISSN： 0002-9580


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  11 in total

1.  The tricho-dento-osseous (TDO) syndrome.

Authors:  J Lichtenstein; R Warson; R Jorgenson; J P Dorst; V A McKusick
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

2.  Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Authors:  Loucas Christodoulou; Anil Krishnaiah; Christina Spyridou; Vincenzo Salpietro; Siobhan Hannan; Anand Saggar; Kshitij Mankad; Akash Deep; Maria Kinali
Journal:  Quant Imaging Med Surg       Date:  2015-06

3.  Kenny syndrome: description of additional abnormalities and molecular studies.

Authors:  I Bergada; A Schiffrin; H Abu Srair; P Kaplan; J Dornan; D Goltzman; G N Hendy
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

4.  Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

Authors:  R J Richardson; J M Kirk
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

5.  FAM111A is dispensable for electrolyte homeostasis in mice.

Authors:  Barnabas P Ilenwabor; Heidi Schigt; Andreas Kompatscher; Caro Bos; Malou Zuidscherwoude; Bram C J van der Eerden; Joost G J Hoenderop; Jeroen H F de Baaij
Journal:  Sci Rep       Date:  2022-06-17       Impact factor: 4.996

6.  FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Authors:  Sheila Unger; Maria W Górna; Antony Le Béchec; Sonia Do Vale-Pereira; Maria Francesca Bedeschi; Stefan Geiberger; Giedre Grigelioniene; Eva Horemuzova; Faustina Lalatta; Ekkehart Lausch; Cinzia Magnani; Sheela Nampoothiri; Gen Nishimura; Duccio Petrella; Francisca Rojas-Ringeling; Akari Utsunomiya; Bernhard Zabel; Sylvain Pradervand; Keith Harshman; Belinda Campos-Xavier; Luisa Bonafé; Giulio Superti-Furga; Brian Stevenson; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

7.  The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

Authors:  F Majewski; W Rosendahl; M Ranke; K Nolte
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183

8.  Kenny-Caffey syndrome type 1.

Authors:  Tony El Jabbour; Tarek Aboursheid; Mohammad Baraa Keifo; Ismael Maksoud; Diana Alasmar
Journal:  Avicenna J Med       Date:  2014-07

9.  Infantile Cortical Hyperostosis: Report of a Case with Observations on Clinical Manifestations, Radiology, and Pathology with a Late Follow-Up of Eight Years.

Authors:  Pedro Carlos M Sarmento Pinheiro; Ierecê Lins Aymore; Armando Rocha Amoedo; Paulo Miguel Hemais
Journal:  Case Rep Pediatr       Date:  2016-12-06

10.  Kenny-Caffey syndrome type 1 in an Egyptian girl.

Authors:  Kotb Abbass Metwalley; Hekma Saad Farghaly
Journal:  Indian J Endocrinol Metab       Date:  2012-09
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