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Macrosomia, microphthalmia, and early rapid or sudden infant death: a new syndrome?

Macrosomia together with macroglossia and omphalocele permits the recognition of Beckwith-Wiedemann syndrome which is frequently observed in sporadic occurrence and occasionally as an autosomal dominant disorder. However, macrosomia may be also a part of several clinically recognizable overgrowth syndromes such as cerebral gigantism, Smith-Marshall syndrome, and Weaver syndrome.
 Recently, we observed a female infant with macrosomia (birth weight 4,650 g, length 52 cm), bilateral severe microphthalmia, frequent cyanotic spells with apnea, and an early death at 43 days due to overwhelming illness.