Publication: Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?
Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?
Date
Date
Date
Citations
Achermann, S., Largo, R., Kotzot, D., Riegel, M., & Schinzel, A. (1999). Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome? American Journal of Medical Genetics, 86, 486–491. https://doi.org/10.1002/(SICI)1096-8628(19991029)86:5<486::AID-AJMG16>3.0.CO;2-6
Abstract
Abstract
Abstract
We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-know
Metrics
Citations
Additional indexing
Creators (Authors)
- Achermann, Sibylla
- Largo, Remo
- Kotzot, Dieter
- Riegel, Mariluce
- Schinzel, Albert
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Metrics
Citations
Citations
Achermann, S., Largo, R., Kotzot, D., Riegel, M., & Schinzel, A. (1999). Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome? American Journal of Medical Genetics, 86, 486–491. https://doi.org/10.1002/(SICI)1096-8628(19991029)86:5<486::AID-AJMG16>3.0.CO;2-6
