First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome.
We describe a case of first-trimester diagnosis of micrognathia. A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin. A subsequent amniocentesis at 15 weeks' gestation revealed a normal karyotype. A morphology scan and subsequent postmortem examination at 19 weeks confirmed the first-trimester findings and revealed, in addition to the facial pathology, a complex cardiac abnormality and unilateral talipes equinovarus. These findings are consistent with the diagnosis of Pierre Robin syndrome.
Teoh
M
M
Department of Obstetrics & Gynaecology, Box Hill Hospital, Victoria, Australia. markteoh@bigpond.com
Meagher
S
S
D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005313:Fetal Death; D006801:Humans; D008844:Micrognathism / Q000150:complications / Q000000981:diagnostic imaging*; D010855:Pierre Robin Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000379:methods