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Titel:

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

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Am J Med Genet
Jahr:
2002
Band / Volume:
109
Heft / Issue:
2
Seitenangaben Beitrag:
139-48
Sprache:
eng
Volltext / DOI:
doi:10.1002/ajmg.10324
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/11977163
Print-ISSN:
0148-7299
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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