AI Article Synopsis
- The patient is an adult female exhibiting macrocephaly (enlarged head), mental retardation, seizures, and spastic paraplegia (weakness in the legs).
- She has a unique craniofacial appearance, suggesting she may have a rare syndrome known as Fryns syndrome, of which she is believed to be the fourth identified case.
- The text highlights the main features of this syndrome and discusses other possible physical manifestations associated with it.
Article Abstract
An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.20274 | DOI Listing |
Publication Analysis
Top Keywords
craniofacial appearance
12
spastic paraplegia
12
macrocephaly distinct
8
distinct craniofacial
8
appearance spastic
8
paraplegia case
4
case expansion
4
expansion phenotype
4
phenotype adult
4
adult female
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!