A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata

Clin Dysmorphol. 2018 Oct;27(4):151-153. doi: 10.1097/MCD.0000000000000231.

Authors

Elise Brimble¹, Michelle Pacione², Ellyn Farrelly², David A Stevenson², Maura R Z Ruzhnikov^{1

2}

Affiliations

¹ Departments of Neurology and Neurological Sciences.
² Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, California, USA.

PMID: 29912012
DOI: 10.1097/MCD.0000000000000231

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Chondrodysplasia Punctata / genetics*
Chromosome Deletion
Chromosomes, Human, Pair 22 / genetics*
Diagnosis, Dual (Psychiatry)
Genetic Diseases, X-Linked / genetics*
Humans
Male

Supplementary concepts

X-Linked Chondrodysplasia Punctata 1