Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome

Clin Dysmorphol. 2018 Jan;27(1):25-26. doi: 10.1097/MCD.0000000000000195.

Authors

Takaya Nakane¹, Emi Sawanobori¹, Hirofumi Ohashi², Kanji Sugita¹

Affiliations

¹ Department of Pediatrics, University of Yamanashi, Yamanashi.
² Department of Genetics, Saitama Children's Medical Center, Saitama, Japan.

PMID: 28746062
DOI: 10.1097/MCD.0000000000000195

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple
Arrhythmias, Cardiac / physiopathology*
Child
Genetic Diseases, X-Linked / physiopathology*
Gigantism / physiopathology*
Glypicans / genetics
Glypicans / physiology
Heart Defects, Congenital / physiopathology*
Heparan Sulfate Proteoglycans / genetics
Humans
Intellectual Disability / physiopathology*
Kidney / physiopathology*
Male

Substances

GPC3 protein, human
GPC4 protein, human
Glypicans
Heparan Sulfate Proteoglycans

Supplementary concepts

Simpson-Golabi-Behmel syndrome