Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel‐phocomelia syndrome? | Zendy

Evliyaoglu N. | Zendy; Temoçin A. K. | Zendy; Altmtas D. U. | Zendy; Duman N. | Zendy; Satar N. | Zendy; Siileymanova D. | Zendy

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Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel‐phocomelia syndrome?

Author(s) -

Evliyaoglu N.,

Temoçin A. K.,

Altmtas D. U.,

Duman N.,

Satar N.,

Siileymanova D.

Publication year - 1996

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/j.1399-0004.1996.tb04330.x

Subject(s) - ectrodactyly , medicine , hypoplasia , urinary system , skull , hydronephrosis , anatomy , ectromelia , surgery , radiology , ectodermal dysplasia , virus , virology

This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel‐phocomelia syndrome with additional urinary tract anomalies.

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