Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.
Taiwan J Obstet Gynecol
; 55(6): 771-776, 2016 Dec.
Article
in En
| MEDLINE
| ID: mdl-28040117
ABSTRACT
OBJECTIVE:
Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS ANDMETHODS:
We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management.RESULTS:
Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed.CONCLUSION:
Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteogenesis Imperfecta
/
Pierre Robin Syndrome
/
Prenatal Diagnosis
/
Spleen
/
Algorithms
/
Lymphocele
/
Multicystic Dysplastic Kidney
/
Campomelic Dysplasia
/
Femur
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Taiwan J Obstet Gynecol
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2016
Type:
Article