Literature DB >> 6141091

Micrognathia-prenatal ultrasonographic diagnosis.

E Shalev, E Weiner, E Feldman, H Cohen, H Zuckerman.   

Abstract

The first case of prenatal real-time ultrasonographic diagnosis of micrognathia is presented. Diagnosis was made at 17 weeks' gestation in the fetus of a patient with previous infant affected with the syndrome of thrombocytopenia with absent radii (TAR). Recognition of micrognathia as a part of TAR syndrome and the easy visualization of fetal facial bones in the second trimester made diagnosis possible.

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Year:  1983        PMID: 6141091     DOI: 10.1016/0020-7292(83)90027-9

Source DB:  PubMed          Journal:  Int J Gynaecol Obstet        ISSN: 0020-7292            Impact factor:   3.561


  2 in total

1.  Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Authors:  K L Greenhalgh; R T Howell; A Bottani; P J Ancliff; H G Brunner; C C Verschuuren-Bemelmans; E Vernon; K W Brown; R A Newbury-Ecob
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

2.  Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Authors:  Irene Bottillo; Marco Castori; Carmelilia De Bernardo; Romano Fabbri; Barbara Grammatico; Nicoletta Preziosi; Giovanna Sforzolini Scassellati; Evelina Silvestri; Antonella Spagnuolo; Luigi Laino; Paola Grammatico
Journal:  BMC Res Notes       Date:  2013-09-22
  2 in total

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