✦ LIBER ✦

A case of third trimester diagnosis of Cornelia de Lange syndrome

✍ Scribed by V. Kanellopoulos; C. Iavazzo; C. Tzanatou; E. Papadakis; K. Tassis

Publisher: Springer
Year: 2009
Tongue: English
Weight: 375 KB
Volume: 283
Category: Article
ISSN: 0003-9128
DOI: 10.1007/s00404-009-1279-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Neuropathological analysis of an adult c

Neuropathological analysis of an adult case of the Cornelia de Lange syndrome

✍ Nicolas Vuilleumier; Enikö Kövari; Agnès Michon; Patrick R. Hof; Georges Menteno 📂 Article 📅 2002 🏛 Springer-Verlag 🌐 English ⚖ 206 KB

Prenatal ultrasonographic appearance of

Prenatal ultrasonographic appearance of “Cornelia de Lange” syndrome

✍ Leo F. Drolshagen; Gudron Durmon; Mike Berumen; Deland D. Burks 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 609 KB

Second-trimester pregnancy associated pl

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

✍ David A. Aitken; Maggie Ireland; Esther Berry; Jennifer A. Crossley; James N. Ma 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

Maternal serum samples were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype ascertained by careful clinical review. Using specific immunoassays, the serum levels of pregnancy associated plasma protein-A, free-beta human cho

Descriptive epidemiology of Cornelia de

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

✍ Ingeborg Barisic; Visnja Tokic; Maria Loane; Fabrizio Bianchi; Eliza Calzolari; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 3 views

## Abstract Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We prese

Natural history of aging in Cornelia de

Natural history of aging in Cornelia de Lange syndrome

✍ Antonie D. Kline; Marco Grados; Paul Sponseller; Howard P. Levy; Natalie Blagowi 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 339 KB 👁 3 views

## Abstract Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux pe

Chromosome banding study of the Cornelia

Chromosome banding study of the Cornelia de Lange syndrome

✍ J. R. Merikangas; K. Merikangas; L. Katz; S. Pan 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 138 KB

Chromosome studies were performed on 13 patients with the Cornelia de Lange syndrome. With the technique of chromosome banding analysis, no chromosomal abnormalities were found.