## Abstract An 11‐year‐old girl was seen with short stature, a head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, a genu valgum, and flat feet. A radiograph
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: Report of a new patient and review of the literature
✍ Scribed by A. Mégarbané; I. Ghanem; M. Le Merrer
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 181 KB
- Volume
- 122A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We report on two new patients who had unilateral microphthalmia and esophageal atresia. A similar association was previously described in six patients. The accumulation of the eight affected patients provides further support for recognizing this association as a distinct syndrome. Am. J. Med. Genet.
## Abstract We describe a patient with multiple congenital abnormalities exhibiting 2–5 supernumerary chromosomes per cells. A variety of FISH techniques were used to demonstrate that the markers are probably rings, lack detectable telomere sequences, and originate from different non‐acrocentric ch