Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
Journal of Genetic Medicine
; : 123-127, 2015.
Article
in En
| WPRIM
| ID: wpr-195760
Responsible library:
WPRO
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.
Key words
Full text:
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Index:
WPRIM
Main subject:
Prenatal Diagnosis
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Congenital Abnormalities
/
Genetic Heterogeneity
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Extremities
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Comparative Genomic Hybridization
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Femur
/
Fibula
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Foot
/
Hand
Type of study:
Diagnostic_studies
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2015
Type:
Article