Split-hand split-foot syndrome

D Drozd, N Babenko, O 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.

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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.

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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.

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Images 7, 8: Postnatal images showing ectrodactyly.

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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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