Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).

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.

• Authors: Pinar Kumru, Nurettin Aka, Gültekin Köse, Zeynep Tuzcular Vural, Onder Peker, Hülya Kayserili
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) Vol. 20 Issue 5 Pg. 410-4 ( 2005) ISSN: 1015-3837 [Print] Switzerland
• PMID: 16113563 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright (c) 2005 S. Karger AG, Basel.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Adult
• Diagnosis, Differential
• Female
• Fibula (abnormalities)
• Humans
• Pregnancy
• Short Rib-Polydactyly Syndrome (diagnostic imaging)
• Ultrasonography, Prenatal