Abstract
A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.
| Original language | English |
|---|---|
| Pages (from-to) | 191-194 |
| Number of pages | 4 |
| Journal | Journal of Human Genetics |
| Volume | 43 |
| Issue number | 3 |
| Publication status | Published - 1998 |
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Keywords
- Cataracts
- Connective tissue disorder
- Joint laxity
- Mid-face hypoplasia
- Skeletal abnormalities
- Vitreoretinal degeneration
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations : A new syndrome? / Nishimura, Gen; Hasegawa, Tomonobu; Sugii, Kyoko; Tsuyama, Kaiichiro; Matsuo, Nobutake.
In: Journal of Human Genetics, Vol. 43, No. 3, 1998, p. 191-194.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations
T2 - A new syndrome?
AU - Nishimura, Gen
AU - Hasegawa, Tomonobu
AU - Sugii, Kyoko
AU - Tsuyama, Kaiichiro
AU - Matsuo, Nobutake
PY - 1998
Y1 - 1998
N2 - A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.
AB - A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.
KW - Cataracts
KW - Connective tissue disorder
KW - Joint laxity
KW - Mid-face hypoplasia
KW - Skeletal abnormalities
KW - Vitreoretinal degeneration
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UR - http://www.scopus.com/inward/citedby.url?scp=0031613773&partnerID=8YFLogxK
M3 - Article
VL - 43
SP - 191
EP - 194
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 3
ER -