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[Pure spondylar dysplasia or brachyolmy. Apropos of a case].
Arch Fr Pediatr. 1975 Oct; 32(8):695-708.AF

Abstract

A case of brachyolmy in a 13 year-old girl is reported. Growth retardation was detected when the child was 5 year old and became severe when 13 years. It concerned only the trunk, limbs being normal. Kyphoscoliosis, akromikia of hands and feet, slight facial dysmorphy with flat nose and thick lips were present. Characteristic radiological features were observed: kyphoscoliosis, platyspondyly with transversally enlarged and irregular vertebrae. Morphological changes of the other epiphyses were minimal: short and squat colla femorii and reduced size of the aleae ilii. Mental development was normal and polyvisceral examination unremarkable. No biological changes were demonstrable, mucopolysaccharides and urinary acids having been found normal. This condition may be transmitted as an autosomal recessive trait.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

816327

Citation

Fontaine, G, et al. "[Pure Spondylar Dysplasia or Brachyolmy. Apropos of a Case]." Archives Francaises De Pediatrie, vol. 32, no. 8, 1975, pp. 695-708.
Fontaine G, Maroteaux P, Farriaux JP, et al. [Pure spondylar dysplasia or brachyolmy. Apropos of a case]. Arch Fr Pediatr. 1975;32(8):695-708.
Fontaine, G., Maroteaux, P., Farriaux, J. P., & Bosquet, M. (1975). [Pure spondylar dysplasia or brachyolmy. Apropos of a case]. Archives Francaises De Pediatrie, 32(8), 695-708.
Fontaine G, et al. [Pure Spondylar Dysplasia or Brachyolmy. Apropos of a Case]. Arch Fr Pediatr. 1975;32(8):695-708. PubMed PMID: 816327.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Pure spondylar dysplasia or brachyolmy. Apropos of a case]. AU - Fontaine,G, AU - Maroteaux,P, AU - Farriaux,J P, AU - Bosquet,M, PY - 1975/10/1/pubmed PY - 1975/10/1/medline PY - 1975/10/1/entrez SP - 695 EP - 708 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 32 IS - 8 N2 - A case of brachyolmy in a 13 year-old girl is reported. Growth retardation was detected when the child was 5 year old and became severe when 13 years. It concerned only the trunk, limbs being normal. Kyphoscoliosis, akromikia of hands and feet, slight facial dysmorphy with flat nose and thick lips were present. Characteristic radiological features were observed: kyphoscoliosis, platyspondyly with transversally enlarged and irregular vertebrae. Morphological changes of the other epiphyses were minimal: short and squat colla femorii and reduced size of the aleae ilii. Mental development was normal and polyvisceral examination unremarkable. No biological changes were demonstrable, mucopolysaccharides and urinary acids having been found normal. This condition may be transmitted as an autosomal recessive trait. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/816327/[Pure_spondylar_dysplasia_or_brachyolmy__Apropos_of_a_case]_ L2 - https://medlineplus.gov/spineinjuriesanddisorders.html DB - PRIME DP - Unbound Medicine ER -