Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
Journal of Genetic Medicine
;
: 123-127, 2015.
Article
in English
| WPRIM
| ID: wpr-195760
ABSTRACT
Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Congenital Abnormalities
/
Genetic Heterogeneity
/
Extremities
/
Comparative Genomic Hybridization
/
Femur
/
Fibula
/
Foot
/
Hand
Type of study:
Diagnostic study
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2015
Type:
Article
Similar
MEDLINE
...
LILACS
LIS