[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)]
- PMID: 6472301
[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)]
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.
Similar articles
-
Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.Radiology. 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847. Radiology. 1999. PMID: 10478256 Review.
-
Dwarfism in the newborn: the nomenclature, radiological features and genetic significance.Br J Radiol. 1974 Feb;47(554):77-93. doi: 10.1259/0007-1285-47-554-77. Br J Radiol. 1974. PMID: 4206212 No abstract available.
-
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.J Med Genet. 1990 Nov;27(11):693-6. doi: 10.1136/jmg.27.11.693. J Med Genet. 1990. PMID: 2277385 Free PMC article.
-
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.Proc R Soc Med. 1972 Aug;65(8):727. doi: 10.1177/003591577206500829. Proc R Soc Med. 1972. PMID: 5085968 Free PMC article. No abstract available.
-
The genetics of short stature.Prog Med Genet. 1972;8:243-99. Prog Med Genet. 1972. PMID: 4259833 Review. No abstract available.
Cited by
-
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.Eur J Pediatr. 1993 Mar;152(3):211-7. doi: 10.1007/BF01956147. Eur J Pediatr. 1993. PMID: 8444246
-
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia.Eur J Pediatr. 1991 Oct;150(12):847-51. doi: 10.1007/BF01955006. Eur J Pediatr. 1991. PMID: 1743218
-
Cartilage-hair hypoplasia.J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39. J Med Genet. 1995. PMID: 7897625 Free PMC article. Review. No abstract available.
Publication types
MeSH terms
LinkOut - more resources
Medical