Literature DB >> 6472301

[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].

A Lischka, H Frisch, G Weissenbacher.   

Abstract

A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.

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Year:  1984        PMID: 6472301

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd        ISSN: 0026-9298            Impact factor:   0.323


  3 in total

Review 1.  Cartilage-hair hypoplasia.

Authors:  O Mäkitie; T Sulisalo; A de la Chapelle; I Kaitila
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

2.  Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.

Authors:  O Mäkitie; I Kaitila
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

3.  Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.

Authors:  M Le Merrer; P Maroteaux
Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

  3 in total

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