New case of Beemer-Langer syndrome

Citation
Gm. Vujanic et Nca. Hunt, New case of Beemer-Langer syndrome, PEDIATR D P, 3(3), 2000, pp. 281-285
Citations number
13
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
ISSN journal
10935266 → ACNP
Volume
3
Issue
3
Year of publication
2000
Pages
281 - 285
Database
ISI
SICI code
1093-5266(200005/06)3:3<281:NCOBS>2.0.ZU;2-F
Abstract
We present the case of a male infant born at 37 weeks gestation with multip le congenital anomalies, including hydrops fetalis, facial and visceral abn ormalities, short ribs, and short limbs without polydactyly. We believe tha t this represents a further case of the Beemer-Langer syndrome, a relativel y recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intes tines.