Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2012 Aug;158A(8):1815-22. doi: 10.1002/ajmg.a.35445. Epub 2012 Jun 18.

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

Author information

  • 1Department of Orthopaedic Surgery, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.


We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre-school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X-linked recessive syndrome.

Copyright © 2012 Wiley Periodicals, Inc.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley Icon for PubMed Central
    Loading ...
    Write to the Help Desk