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

Abstract

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… (More)
DOI: 10.1002/ajmg.a.35445

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Cite this paper

@article{Baratela2012ANR, title={A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.}, author={Wagner Rosa Baratela and Michael B Bober and George E. Tiller and Ericka B. Okenfuss and Colleen P. Ditro and Angela Duker and Deborah Krakow and Deborah L. Stabley and Katia Sol-Church and William Mackenzie and Ralph Lachman and Charles I. Scott}, journal={American journal of medical genetics. Part A}, year={2012}, volume={158A 8}, pages={1815-22} }