Gamuts

Marshall-Smith syndrome

Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variability regarding related symptoms. [Source: Wikipedia ]

OrphaNet reference
Marshall-Smith syndrome 
May Cause
Abnormal odontoid process
Absent nose
Advanced bone age
Advanced bone age in a newborn
Blue sclerae
Choanal atresia
Choanal stenosis
Congenital macrocephaly
Dental defect
Depressed nasal bridge
Frontal bossing
Gigantism
Hirsutism
Laryngeal anomaly
Long thin bones
Macrocephaly
Micrognathia
Myopia
Slender tubular long bones
Small nose
Small orbit
OrphaNet reference
Marshall-Smith syndrome 
May Cause
Abnormal odontoid process
Absent nose
Advanced bone age
Advanced bone age in a newborn
Blue sclerae
Choanal atresia
Choanal stenosis
Congenital macrocephaly
Dental defect
Depressed nasal bridge
Frontal bossing
Gigantism
Hirsutism
Laryngeal anomaly
Long thin bones
Macrocephaly
Micrognathia
Myopia
Slender tubular long bones
Small nose
Small orbit


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