Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Nephrosclerosis

Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.


合計: 1

                      


(表示件数)
PMID (PMCID)
10454788
MALE Adult
Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).
Sorof JM, Dow-Smith C, Moore PJ.
Pediatr Nephrol. 1999;13(4):343-6.
We report a 19-year-old male with Seckel syndrome (bird-like dwarfism) who presents with malignant hypertension associated with hypertensive nephrosclerosis, dilated cardiomyopathy, and a ruptured cerebral artery aneurysm.