Monozygotic twins discordant for Goldenhar syndrome

Jornal de pediatria
Leonardo Lima VeronaDébora Gusmão Melo

Abstract

To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal intensive care unit (ICU). The other twin was a girl, born weighing 3,200 g with a length of 49 cm, head circumference of 34 cm and Apgar scores of 8/10. She was transferred to the mother-baby unit soon after birth and was discharged two days later. There was no consanguinity between the twins' parents, who were young and healthy at the time of their conception. The affected child's dysmorphic features included left hemifacial microsomia, severe micrognathia, abnormal ears, bilateral preauricular tags and epibulbar dermoid in the right eye. She developed obstructive apnea due to micrognathia and required tracheostomy. Abdominal and cranial ultrasound findings were normal, as was an ophthalmological assessment. Spine x-ray showed hemivertebra at T9 and T10. An echocardiogram showed Tetralogy of Fallot. GTG-banded karyotyping was performed on peripheral blood cel...Continue Reading

Citations

Jun 24, 2010·Journal of Assisted Reproduction and Genetics·Victoria Gittins, Jason Kasraie
Jun 11, 2009·European Journal of Human Genetics : EJHG·Jet BliekMarcel M A M Mannens
Nov 9, 2011·Fetal and Pediatric Pathology·Larissa V FurtadoJohn M Opitz
Apr 14, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Geoffrey Machin
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma
Nov 28, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Carla M Van BennekomUNKNOWN National Birth Defects Prevention Study

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