Velo-facio-skeletal syndrome in a mother and daughter
Abstract
We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality are reminiscent to those in the velo-cardio-facial syndrome. High resolution banding and fluorescent in situ hybridization studies showed no evidence of 22q11 deletions. Differentiation from Aarskog syndrome and Robinow syndrome is discussed. 9 refs., 5 figs., 3 tabs.
- Authors:
-
- Yale Univ. School of Medicine, New Haven, CT (United States); and others
- Publication Date:
- Sponsoring Org.:
- USDOE
- OSTI Identifier:
- 441151
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 58; Journal Issue: 1; Other Information: PBD: 31 Jul 1995
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 22; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; PATIENTS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; PHENOTYPE; DETECTION; GENETICS; BANDING TECHNIQUES; FLUORESCENCE; DOMINANT MUTATIONS; BIOLOGICAL MARKERS; DNA HYBRIDIZATION
Citation Formats
Teebi, A S, Meyn, M S, and Meyers-Seifer, C H. Velo-facio-skeletal syndrome in a mother and daughter. United States: N. p., 1995.
Web. doi:10.1002/ajmg.1320580103.
Teebi, A S, Meyn, M S, & Meyers-Seifer, C H. Velo-facio-skeletal syndrome in a mother and daughter. United States. https://doi.org/10.1002/ajmg.1320580103
Teebi, A S, Meyn, M S, and Meyers-Seifer, C H. 1995.
"Velo-facio-skeletal syndrome in a mother and daughter". United States. https://doi.org/10.1002/ajmg.1320580103.
@article{osti_441151,
title = {Velo-facio-skeletal syndrome in a mother and daughter},
author = {Teebi, A S and Meyn, M S and Meyers-Seifer, C H},
abstractNote = {We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality are reminiscent to those in the velo-cardio-facial syndrome. High resolution banding and fluorescent in situ hybridization studies showed no evidence of 22q11 deletions. Differentiation from Aarskog syndrome and Robinow syndrome is discussed. 9 refs., 5 figs., 3 tabs.},
doi = {10.1002/ajmg.1320580103},
url = {https://www.osti.gov/biblio/441151},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 58,
place = {United States},
year = {Mon Jul 31 00:00:00 EDT 1995},
month = {Mon Jul 31 00:00:00 EDT 1995}
}