A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type

Clin Dysmorphol. 2021 Jul 1;30(3):150-153. doi: 10.1097/MCD.0000000000000371.

Authors

Elif Ece Kalaoglu¹, Ayberk Turkyilmaz², Bilgen Bilge Geckinli³, Esra Arslan Ates³, Ali Mentes⁴, Ahmet Arman³

Affiliations

¹ Faculty of Dentistry, Department of Pediatric Dentistry, Biruni University, Istanbul.
² Department of Medical Genetics, Erzurum Region Research and Training Hospital, Erzurum.
³ Department of Medical Genetics, School of Medicine.
⁴ Faculty of Dentistry, Department of Pediatric Dentistry, Marmara University, Istanbul, Turkey.

PMID: 33859079
DOI: 10.1097/MCD.0000000000000371

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Child
Craniofacial Abnormalities / genetics
Humans
Ichthyosis, Lamellar / physiopathology
Male
Muscular Atrophy / genetics
Osteochondrodysplasias / diagnosis*
Osteochondrodysplasias / genetics*

Supplementary concepts

Facial Dysmorphism with Multiple Malformations
Spondyloepimetaphyseal dysplasia, sponastrime type