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

作者：Baratela Wagner A R; Bober Michael B^*; Tiller George E; Okenfuss Ericka; Ditro Colleen; Duker Angela; Krakow Deborah; Stabley Deborah L; Sol Church Katia; Mackenzie William; Lachman Ralph; Scott Charles I Jr

来源：American Journal of Medical Genetics, Part A, 2012, 158A(8): 1815-1822.

DOI：10.1002/ajmg.a.35445

• skeletal dysplasia
• patellar dislocation
• developmental delay

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.

• 出版日期2012-8