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Skeletal
2014-02-03-09 Split-hand split-foot syndrome © Drozd
www.TheFetus.net
Split-hand split-foot syndrome
Dmitry Drozd
, MD Natalia Babenko, Olga Grebenyak.
Private medical clinic "IRC", Khabarovsk, Russia.
Case report
A 30-year-old woman first time visited our office at 15 weeks of pregnancy. Her previous pregnancy was terminated due to some fetal skeletal anomalies. Her 35-year-old husband was born with some skeletal abnormalities of upper and lower extremities and underwent a surgical treatment.
Our ultrasonographic examination at 15 weeks revealed following findings:
Images 1, 2
: 15 weeks of gestation; the images show 2D and 3D scans of the fetus with Split-hand split-foot syndrome.
Another examination was done at 22-23 weeks:
Images 3, 4
: 22-23 weeks of gestation; the images show 2D and 3D scans of the fetal hand with Split-hand split-foot syndrome.
Images 5, 6
: 32-33 weeks of gestation;
the images show 2D and 3D scans of the fetal hand with Split-hand split-foot syndrome.
Images 7, 8
: Postnatal images showing
ectrodactyly.
Diagnosis of
autosomal dominant ectrodactyly (Split-hand split-foot syndrome) and absence of long bones of upper or lower limbs
,
OMIM 119100
was confirmed postnatally.
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