Monozygotic twins discordant for Goldenhar syndrome.
OBJECTIVE
To report on a pair of monozygotic female twins discordant for Goldenhar syndrome.


METHODS
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 cells and revealed 46,XX. Zygosity testing established the pair of twins to be monozygotic with a probability greater than 99:1.


CONCLUSIONS
Goldenhar syndrome was diagnosed in one of the twins described here. There are several reports of twins discordant for this disorder and therefore non-genetic factors may also play an important role, for instance vascular disruption during morphogenesis.
Verona
Leonardo Lima
LL
Faculdade de Medicina, Centro Universitário Barão de Mauá, Ribeirão Preto, SP, Brazil.
Damian
Nicholas Godoy Canazza
NG
Pavarina
Lucimara P
LP
Ferreira
Cristina H F
CH
Melo
Débora Gusmão
DG
D001034:Apgar Score; D004200:Diseases in Twins / Q000473:pathology*; D005260:Female; D006053:Goldenhar Syndrome / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D014430:Twins, Monozygotic