Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia.
Publication/Presentation Date
9-15-2002
Abstract
A boy with a severe prenatal onset dysplasia, prominent occiput, hypertelorism, epicanthus inversus, low-set ears, flat nasal bridge, small nares, cleft palate, subglottic stenosis, narrow cervical canal, undermodeled bones, cortical thinning of the diaphyses, hip dislocation, severely delayed bone ossification, and apparently normal intellectual development is described. Osseous histopathological studies were unremarkable. The boy's parents are first cousins, suggesting recessive inheritance. To the best of our knowledge, this association has not been reported before, and may be considered a novel syndrome.
Volume
112
Issue
1
First Page
70
Last Page
74
ISSN
0148-7299
Published In/Presented At
Mégarbané, A., Ghanem, I., Rizk, T., & Jabbour, P. (2002). Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia. American journal of medical genetics, 112(1), 70–74. https://doi.org/10.1002/ajmg.10653
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
12239724
Department(s)
Administration and Leadership
Document Type
Article