Publication:

Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus

Date

Date

Date
1983
Journal Article
Published version

Citations

Citation copied

Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C., & Opitz, J. M. (1983). Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus. American Journal of Medical Genetics, 14, 139–147. https://doi.org/10.1002/ajmg.1320140119

Abstract

Abstract

Abstract

Sisters with the Antley‐Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero‐radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, s

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55 since deposited on 2023-10-25
Acq. date: 2025-11-13

Additional indexing

Creators (Authors)

  • Schinzel, Albert
    affiliation.icon.alt
  • Savoldelli, Guido
    affiliation.icon.alt
  • Briner, Jakob
    affiliation.icon.alt
  • Sigg, Peter
  • Massini, Carlo
  • Opitz, John M

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
14

Number

Number

Number
1

Page range/Item number

Page range/Item number

Page range/Item number
139

Page end

Page end

Page end
147

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Keywords

Genetics (clinical), Genetics, Multiple congenital anomalies, humero-radial synostosis, premature craniosynostosis, femoral bowing, antosomal-recessive inheritance

Language

Language

Language
English

Publication date

Publication date

Publication date
1983-01-01

Date available

Date available

Date available
2023-10-25

Publisher

Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0148-7299

OA Status

OA Status

OA Status
Closed

PubMed ID

PubMed ID

PubMed ID

Other Identification Number

Other Identification Number

Other Identification Number
Corpus ID: 25246481

Metrics

Views

55 since deposited on 2023-10-25
Acq. date: 2025-11-13

Citations

Citation copied

Schinzel, A., Savoldelli, G., Briner, J., Sigg, P., Massini, C., & Opitz, J. M. (1983). Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus. American Journal of Medical Genetics, 14, 139–147. https://doi.org/10.1002/ajmg.1320140119

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