Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Mar 19;12:530028. doi: 10.3389/fgene.2021.530028

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

Copyright © 2021 Candelo, Sanz, Ramirez-Montaño, Diaz-Ordoñez, Granados, Rosso, Nevado, Lapunzina and Pachajoa.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

PMC Copyright notice

Representation of the patient phenotype. (a,b) The patient showed distal tremors, hypertonia, trunk hyperextension, spasticity, microcephaly, craniofacial disproportion, and a decreased vertical skull size. (c) Multiple dimples and arthrogryposis. (d) Feet contractures and prominent calcaneus. (e) Clenched fists, hand contractures, and camptodactyly. (f) Strabismus. (g) Excess skin over the entire scalp and forehead and occipital and nuchal skin folds, generating the appearance of a short neck. (h) Sloping of the forehead and prominence of supraorbital ridges, which creates an appearance of proptosis and oversized facial features, epicanthal folds, and retrognathia. Bilateral depressions were present on the forehead.