Osteoporosis-pseudoglioma syndrome: Report of three affected sibs and an overview

M. Frontali, C. Stomeo, B. Dallapiccola

Research output: Contribution to journalArticle

Abstract

We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.

Original languageEnglish
Pages (from-to)35-47
Number of pages13
JournalAmerican Journal of Medical Genetics
Volume22
Issue number1
Publication statusPublished - 1985

Fingerprint

Gene Frequency
Intellectual Disability
Osteoporosis
X-Rays
Osteoporosis-pseudoglioma syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Osteoporosis-pseudoglioma syndrome : Report of three affected sibs and an overview. / Frontali, M.; Stomeo, C.; Dallapiccola, B.

In: American Journal of Medical Genetics, Vol. 22, No. 1, 1985, p. 35-47.

Research output: Contribution to journalArticle

@article{b2ee2c4e143645938f0bbf692e0a8b22,
title = "Osteoporosis-pseudoglioma syndrome: Report of three affected sibs and an overview",
abstract = "We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.",
author = "M. Frontali and C. Stomeo and B. Dallapiccola",
year = "1985",
language = "English",
volume = "22",
pages = "35--47",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Osteoporosis-pseudoglioma syndrome

T2 - Report of three affected sibs and an overview

AU - Frontali, M.

AU - Stomeo, C.

AU - Dallapiccola, B.

PY - 1985

Y1 - 1985

N2 - We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.

AB - We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.

UR - http://www.scopus.com/inward/record.url?scp=0022004784&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022004784&partnerID=8YFLogxK

M3 - Article

C2 - 3931475

AN - SCOPUS:0022004784

VL - 22

SP - 35

EP - 47

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -