Genetic syndromes frequently associated with macrosomia

Syndrome	Main characteristics
Beckwith-Wiedemann	Macroglossia, omphalocele, macrosomia, ear creases
Marshall-Smith	Accelerated growth and maturation, shallow orbits, broad middle phalanges
Simpson-Golabi-Behmel	Macrocephaly, coarse face, ocular hypertelorism, broad flat nose, macrostomia, macroglossia, nail hypoplasia, skeletal abnormalities
Sotos (cerebral gigantism)	Large size, large hands and feet, poor coordination
Berardinelli lipodystrophy	Lipoatrophy, phallic hypertrophy, hepatomegaly, hyperlipemia
Weaver	Macrosomia, accelerated skeletal maturation, camptodactyly, unusual facies

Data from: Jones KL. Smith's Recognizable Patterns of Human Malformation. WB Saunders, Philadelphia 2006.

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