Literature DB >> 3389877

An unusual case of pycnodysostosis.

R Kumar1, P K Misra, R Singhal.   

Abstract

A 6 year old boy with clinical and radiological features of pycnodysostosis is described. In addition to pycnodysostosis he had a myelophthisic type of anaemia suggesting an overlap with osteopetrosis.

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Year:  1988        PMID： 3389877      PMCID： PMC1778899          DOI： 10.1136/adc.63.5.558

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Plasma calcitonin in pycnodysostosis: intermittently high basal levels and exaggerated responses to calcium and glucagon infusions.

Authors:  R K Baker; S Wallach; A H Tashjian
Journal:  J Clin Endocrinol Metab       Date:  1973-07       Impact factor: 5.958

2.  Pycnodysostosis. A variant form with visceral manifestations.

Authors:  K Kozlowski; J S Yu
Journal:  Arch Dis Child       Date:  1972-10       Impact factor: 3.791

3.  Tetracycline-based study of bone dynamics in pycnodysostosis.

Authors:  P Sarnsethsiri; O K Hitt; E J Eyring; H M Frost
Journal:  Clin Orthop Relat Res       Date:  1971-01       Impact factor: 4.176

4.  Pycnodysostosis, with a familial chromosome anomaly.

Authors:  S M Elmore; W E Nance; B J McGee; M Engel-de Montmollin; E Engel
Journal:  Am J Med       Date:  1966-02       Impact factor: 4.965
  4 in total
  4 in total

1.  Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

Authors:  Inês Girbal; Teresa Nunes; Ana Medeira; Teresa Bandeira
Journal:  BMJ Case Rep       Date:  2013-09-20

Review 2.  Lumbar spine anomalies in a pycnodysostosis case.

Authors:  J L Beguiristain; F J Arriola; M Leyes
Journal:  Eur Spine J       Date:  1995       Impact factor: 3.134

3.  Pycnodysostosis with anemia.

Authors:  F Cetinkaya; M Aydin; M Selcuk
Journal:  Indian J Pediatr       Date:  1993 Sep-Oct       Impact factor: 1.967

4.  Novel mutation and white matter involvement in an Indian child with pycnodysostosis.

Authors:  Ankur Singh; Sergio Cuevas-Covarrubias; Gaurav Pradhan; V K Gautam; Olga Messina-Baas; Luz Maria Gonzalez-Huerta; Manisha Goyal; Seema Kapoor
Journal:  Indian J Pediatr       Date:  2014-10-12       Impact factor: 1.967
  4 in total

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