Ontology highlight
ABSTRACT:
SUBMITTER: Baratela WA
PROVIDER: S-EPMC4164294 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Baratela Wagner A R WA Bober Michael B MB Tiller George E GE Okenfuss Ericka E Ditro Colleen C Duker Angela A Krakow Deborah D Stabley Deborah L DL Sol-Church Katia K Mackenzie William W Lachman Ralph R Scott Charles I CI
American journal of medical genetics. Part A 20120618 8
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 pr ...[more]