SPONDYLO-CAMPTODACTYLY SYNDROME - A DISTINCT AUTOSOMAL-DOMINANT ENTITY

Authors
LIZCANOGIL LA GARCIACRUZ D SANCHEZCORONA J CANTU JM
Citation
La. Lizcanogil et al., SPONDYLO-CAMPTODACTYLY SYNDROME - A DISTINCT AUTOSOMAL-DOMINANT ENTITY, Clinical genetics, 48(4), 1995, pp. 173-176
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
4
Year of publication
1995
Pages
173 - 176
Database
ISI
SICI code
0009-9163(1995)48:4<173:SS-ADA>2.0.ZU;2-0
Abstract
We present a family in which five members over three generations have a syndrome characterized by camptodactyly, flattened bodies of cervica l vertebrae, and a variable degree of thoracic scoliosis. After exclud ing other camptodactyly syndromes, it was concluded that this associat ion of anomalies probably represents a new autosomal dominant syndrome .