Literature DB >> 917962

Cartilage hair hypoplasia.

D C Siggers, J B Burke, B Morris, I C Normand, J M Tanner, D A Williamson.   

Abstract

Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.

Entities:  

Mesh：

Year:  1977        PMID： 917962      PMCID： PMC2496722          DOI： 10.1136/pgmj.53.622.473

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  5 in total

1.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

2.  Cartilage hair hypoplasia.

Authors:  C B Boothby; B D Bower
Journal:  Arch Dis Child       Date:  1973-11       Impact factor: 3.791

3.  Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.

Authors:  M O Savage
Journal:  Proc R Soc Med       Date:  1972-08

4.  Association of pancreatic insufficiency and chronic neutropenia in childhood.

Authors:  V Burke; J H Colebatch; C M Anderson; M J Simons
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791

Review 5.  Metaphyseal chondrodysplasia.

Authors:  J W Spranger
Journal:  Postgrad Med J       Date:  1977-08       Impact factor: 2.401
  5 in total
  5 in total

1.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.

Authors:  E Juvonen; O Mäkitie; A Mäkipernaa; T Ruutu; I Kaitila; J Rajantie
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183

Review 3.  Metaphyseal chondrodysplasia.

Authors:  J W Spranger
Journal:  Postgrad Med J       Date:  1977-08       Impact factor: 2.401

4.  Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.

Authors:  O Mäkitie; E Marttinen; I Kaitila
Journal:  Pediatr Radiol       Date:  1992

5.  Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Authors:  Patrick Riley; Dennis S Weiner; Bonnie Leighley; David Jonah; D Holmes Morton; Kevin A Strauss; Michael B Bober; Martin S Dicintio
Journal:  J Child Orthop       Date:  2015-03-13       Impact factor: 1.548
  5 in total

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