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Journal of Pediatric Endocrinology and Metabolism
Article . 2000 . Peer-reviewed
Data sources: Crossref
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
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Familial Brachyolmia

Authors: Darcan, S; Yalman, O; Coker, M; Demir, N; Özkınay, F;

Familial Brachyolmia

Abstract

Brachyolmia is characterized clinically by short stature and radiographically by generalized platyspondyly without significant long bone abnormalities. A healthy 13-(8/12) year-old girl was referred for evaluation of short stature. The parents were first cousins. She had two older brothers and a younger brother and sister. On examination, her height was 116.2 cm, height SDS -6.2, armspan 135 cm. She had completed puberty. Except for her short trunk and lower extremities and mild scoliosis, she appeared normal. At 12 years old, the younger brother had short stature. His height was 104.7 cm, height SDS -6.2, armspan 116 cm. The younger sister was 3 years old. Her height was 84.2 cm, height SDS -2.9, armspan 85 cm. Other findings were normal in the younger sister and brother. The other members of the family were of normal stature and appearance. The proband's growth hormone stimulation tests, thyroid function tests, sex steroids, gonadotropins and blood biochemistry were found normal. There were similar radiological findings in the three siblings. There was platyspondyly, narrowing of intervertebral spaces in all vertebral bodies. The iliac bones were broad. No metaphyseal irregularity and normal epiphyses were detected in all patients. No significant changes were seen in long bones and skull. According to the physical and radiological findings, the patients were evaluated as brachyolmia.

Related Organizations
Keywords

short stature, Male, children, Adolescent, brachyolmia, Humans, Female, Osteochondrodysplasias, platyspondyly, Pedigree

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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