Literature DB >> 12745166

Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

William M Sheppard1, Robert J Shprintzen, Sherard A Tatum, Charles I Woods.   

Abstract

Craniometaphyseal dysplasia (CMD) is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at a young age, often with otolaryngologic manifestations. In this paper, we report a rare case of a sporadic form of the disease resulting in an early state of hypocalcemia with secondary hyperparathyroidism. A conductive hearing loss is also documented prior to 12 months of age. The clinical aspects of CMD will be covered along with its pathogenesis. The current concepts surrounding medical and surgical treatments will be reviewed, and the management of our patient will be discussed.

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Year:  2003        PMID: 12745166     DOI: 10.1016/s0165-5876(03)00133-2

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN: 0165-5876            Impact factor:   1.675


  4 in total

1.  Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Authors:  Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A Radecki; Sukwha Kim; Hakon Hakonarson; Hyun-Duck Nah
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

2.  Craniometaphyseal Dysplasia: A review and novel oral manifestation.

Authors:  K Martin; S Nathwani; R Bunyan
Journal:  J Oral Biol Craniofac Res       Date:  2017-05-06

3.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

4.  An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.

Authors:  Giorgio Novelli; Emanuela Ardito; Fabio Mazzoleni; Alberto Bozzetti; Davide Sozzi
Journal:  Ann Stomatol (Roma)       Date:  2017-11-08
  4 in total

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