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.

Nephrolithiasis

The presence of calculi (stones) in the kidneys.


合計: 2

                       


（表示件数）
PMID (PMCID)
29894776
 MALE
Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature.
Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ.
Urology. 2018;120:241-243.
To our knowledge, this is the first reported case of nephrolithiasis in a patient with Seckel syndrome and horseshoe kidneys.
29894776
 MALE
Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature.
Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ.
Urology. 2018;120:241-243.
Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature.