Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).
ABSTRACT The X-linked recessive type of chondrodysplasia punctata (CDPX1) is a skeletal disorder that is characterized by stippled calcification at an epiphyseal nucleus and the surrounding soft tissue, short stature and an unusual face because of nasal hypoplasia. In most of the patients, this condition is noted after birth because of a characteristic face or respiratory problems. Here, we report a fetus with CDPX1. Two-dimensional ultrasound examination revealed unexplained polyhydramnios and a male fetus. Fetal biometry showed shortened long bones. Three-dimensional ultrasonography clearly demonstrated a hypoplastic nose with a depressed nasal bridge and contracture of wrists and fingers. Chromosome analysis of the amniotic fluid cells revealed the 46,Y,del(X)(p22.3) karyotype. Fluorescence in situ hybridization revealed a deletion of subtelomeric sequences at the Xpter and STS gene, but not a deletion of the KAL gene. The genomic copy number analysis demonstrated terminal deletion of 8.33 Mb that included SHOX, CSF2RA, XG, ARSE, NLGN4 and STS genes. We think that our case presents typical features of a fetus with this disorder and will be of great help in prenatal ultrasound diagnosis.
Prenatal Diagnosis 10/2012; 32(10):919-20. DOI:10.1002/pd.3944 · 2.68 Impact Factor
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ABSTRACT: Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.Congenital Anomalies 12/2013; 53(4):160-2. DOI:10.1111/cga.12003
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ABSTRACT: The aim of this study is to assess the rate of prenatal detection of multiple congenital contractures, to identify reasons for the failure of prenatal diagnosis and to propose the first guidelines to improve prenatal diagnosis. We evaluated records on 107 individuals recognized at birth to have Amyoplasia. We reviewed the literature on the onset and development of fetal activity, antenatal clinical signs in fetal movement disorders, prenatal studies of fetal movement and contractures by ultrasound and magnetic resonance imaging (MRI) and existing guidelines. In 73.8%, the diagnosis was missed prenatally. Correct diagnosis was achieved by the identification of bilateral clubfeet on ultrasound or because mothers perceived reduced fetal movement. Ultrasound would be able to visualize contractures, joint positioning, the quality of fetal movements, lung size, muscle tissue, and bone growth in the first or early second trimester. MRI results are promising. Guidelines for assessing early fetal movement do not exist. Prenatal detection rate of multiple congenital contractures is appalling. Failure of diagnosis precludes further etiologic and diagnostic workup and deprives families of making informed pregnancy choices. Standards for prenatal diagnosis are lacking, but on the basis of current knowledge and expert opinion, we propose the first guidelines for a prenatal diagnostic strategy, discuss future directions and the need for multicentric studies. © 2013 John Wiley & Sons, Ltd.Prenatal Diagnosis 01/2013; 33(1):61-74. DOI:10.1002/pd.4011 · 2.68 Impact Factor