The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported

Clin Dysmorphol. 2019 Jan;28(1):26-29. doi: 10.1097/MCD.0000000000000241.

Authors

Yasuyuki Fukuhara¹, Sung Y Cho², Osamu Miyazaki³, Atsushi Hattori⁴, Joo-Hyun Seo⁵, Ryuichi Mashima⁶, Motomichi Kosuga^{1

5

6}, Maki Fukami⁴, Dong-Kyu Jin², Torayuki Okuyama^{5

6}, Gen Nishimura⁷

Affiliations

¹ Division of Medical Genetics.
² Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea.
³ Radiology.
⁴ Molecular Endocrinology, National Center for Child Health and Development, Tokyo.
⁵ Center for Lysosomal Storage Diseases.
⁶ Departments of Clinical Laboratory Medicine.
⁷ Center of Intractable Diseases, Saitama Medical University Hospital, Saitama.

No abstract available

Publication types

Case Reports

MeSH terms

Aggrecans / genetics*
Aggrecans / metabolism*
Aggrecans / physiology
Bone Diseases, Developmental / genetics
Bone Diseases, Developmental / physiopathology*
Craniofacial Abnormalities / genetics
Craniofacial Abnormalities / physiopathology*
Humans
Male
Middle Aged
Osteochondrodysplasias / genetics
Osteochondrodysplasias / physiopathology
Phenotype

Substances

Aggrecans

Supplementary concepts

Spondyloepimetaphyseal Dysplasia, Aggrecan Type