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Title:

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Document type:
Case Reports; 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
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:
2
Pages contribution:
139-48
Language:
eng
Fulltext / DOI:
doi:10.1002/ajmg.10324
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/11977163
Print-ISSN:
0148-7299
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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