Marshall-Smith syndrome

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

Shallow orbits

Reduced depth of the orbits associated with prominent-appearing ocular globes.


合計: 1

                      


(表示件数)
PMID (PMCID)
16086394
MIXED_SAMPLE Infant
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH.
Am J Med Genet A. 2005;137(2):117-24.
The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.