SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS

Authors
ANTICH J MANZANARES R CAMARASA F KRAUEL X VILA J CUSI V
Citation
J. Antich et al., SCHINZEL-GIEDION-SYNDROME - REPORT OF 2 SIBS, American journal of medical genetics, 59(1), 1995, pp. 96-99
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
59
Issue
1
Year of publication
1995
Pages
96 - 99
Database
ISI
SICI code
0148-7299(1995)59:1<96:S-RO2S>2.0.ZU;2-4
Abstract
We report on two further cases, a sister and a brother, with Schinzel- Giedion syndrome. Both presented the following manifestations: ''coars e face'' with midface retraction, agenesis of corpus callosum, bilater al hydronephrosis, and typical skeletal anomalies. Patient 1 had a mal ignant sacrococcygeal teratoma, This is the third case of malignancy i n this syndrome, Patient 2 died shortly after birth. (C) 1995 Wiley-Li ss, Inc.