Literature DB >> 727810

Hypochondroplasia.

J F Glasgow, N C Nevin, P S Thomas.   

Abstract

Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made. Two of our patients had a large head.

Entities:  

Mesh:

Year:  1978        PMID: 727810      PMCID: PMC1545272          DOI: 10.1136/adc.53.11.868

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


  6 in total

1.  Linear growth of long bones of extremities from infancy through adolescence; continuing studies.

Authors:  M M MARESH
Journal:  AMA Am J Dis Child       Date:  1955-06

2.  Parental age and mutation.

Authors:  L S PENROSE
Journal:  Lancet       Date:  1955-08-13       Impact factor: 79.321

3.  Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

Authors:  V A McKusick; T E Kelly; J P Dorst
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

4.  Hypochondroplasia. A report of five kindreds.

Authors:  R K Beals
Journal:  J Bone Joint Surg Am       Date:  1969-06       Impact factor: 5.284

5.  Hypochondroplasia.

Authors:  B A Walker; J L Murdoch; V A McKusick; L O Langer; R K Beals
Journal:  Am J Dis Child       Date:  1971-08

Review 6.  The chondrodystrophies.

Authors:  D L Rimoin
Journal:  Adv Hum Genet       Date:  1975
  6 in total
  3 in total

Review 1.  Molecular biology and its application in paediatric endocrinology.

Authors:  P E Mullis; J K Wagner
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

2.  Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Authors:  Hwa Young Kim; Jung Min Ko
Journal:  Ann Pediatr Endocrinol Metab       Date:  2022-06-30

3.  Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia

Authors:  Tuğba Çetin; Zeynep Şıklar; Pınar Kocaay; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2018-05-09
  3 in total

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