Discordant monozygotic twins for macrocephaly-capillary malformation
نویسندگان
چکیده
منابع مشابه
Monozygotic twins discordant for Aicardi syndrome.
Aicardi syndrome is a developmental disorder characterised by agenesis of the corpus callosum, retinal lacunae, seizures, and developmental delay. It is believed to be X linked with lethality in males. We report a set of monozygotic female twins one of whom is healthy and intellectually normal while the other has the classical Aicardi phenotype with profound retardation. Family history is negat...
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OBJECTIVE To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION 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...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2012
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35382