Fetal Diagnosis and Therapy
Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)Kumru P.a · Aka N.a · Köse G.a · Vural Z.T.a · Peker Ö.b · Kayserili H.cDepartments of aGynecology and Obstetrics and bPathology,Haydarpasa NumuneEducation and Research Hospital, and cDepartment of Genetics, Medical School, Istanbul University, Istanbul, Turkey
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Article / Publication Details
Received: October 27, 2003
Accepted: July 13, 2004
Published online: August 19, 2005
Issue release date: September – October
Number of Print Pages: 5
Number of Figures: 5
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic findings. SRPS type 1 (Saldino-Noonan) and type 3 (Verma-Naumoff) are very similar and frequently get mixed. In this report, we present a case of SRPS with hydrops, thoracic hypoplasia, short limbs and postaxial polydactyly in a 27-week fetus. The visceral findings in the fetus including the central nervous system were normal. The karyotype was 46XY. The prenatal diagnosis was thought to be type 1 because of the absence of fibulae at ultrasonography. However, postmortem autopsy, histologic, and radiologic findings were reviewed and the diagnosis was type 3 SRPS because of absence of visceral anomalies, presence of fan-shaped iliac bones and short tubular bones with metaphyseal widening. We concluded that detailed ultrasonography performed in the prenatal period is very important in the diagnosis and differential diagnosis of SRPS.
© 2005 S. Karger AG, Basel
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Article / Publication Details
Received: October 27, 2003
Accepted: July 13, 2004
Published online: August 19, 2005
Issue release date: September – October
Number of Print Pages: 5
Number of Figures: 5
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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