Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.
Birth Defects Res A Clin Mol Teratol
; 97(3): 166-9, 2013 Mar.
Article
en En
| MEDLINE
| ID: mdl-23463671
ABSTRACT
BACKGROUND:
Here we apply objective, reliable methods of dysmorphology diagnosis to a patient with Johanson-Blizzard syndrome (MIM #243800). Using an extensive normative database, we computed standardized scores on a graded continuum for operational definitions of nasal alar hypoplasia, a commonly observed feature of this condition. CASE Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity.CONCLUSION:
This report provides a worked example of quantitative anthropometric assessment in the context of a case report, using tools that may find general application in clinical genetics.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ano Imperforado
/
Enfermedades Pancreáticas
/
Displasia Ectodérmica
/
Nariz
/
Trastornos del Crecimiento
/
Pérdida Auditiva Sensorineural
/
Hipotiroidismo
/
Discapacidad Intelectual
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Birth Defects Res A Clin Mol Teratol
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos