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Document type:
journal article 
Author(s):
Elliott, AM; Gonzales, M; Hoeffel, JC; Le Merrer, M; Maroteaux, P; Encha-Razavi, F; Joye, N; Berchel, C; Fliegel, C; Aughton, DJ; Beaudry-Rodgers, K; Hasteh, F; Nerlich, AG; Wilcox, WR; Rimoin, DL; Lachman, RS; Freisinger, P 
Title:
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. 
Abstract:
Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. A...    »
 
Journal title abbreviation:
Am J Med Genet 
Year:
2002 
Journal volume:
109 
Journal issue:
Pages contribution:
139-48 
Language:
eng 
Print-ISSN:
0148-7299 
TUM Institution:
Kinderklinik und Poliklinik