ISSN:
1432-1076
Keywords:
Goldenhar syndrome
;
Hemifacial microsomia
;
Developmental field complex
;
Mental retardation
;
Multiple congenital anomalies syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular malformations were evident. The oculoauriculovertebral malformation complex is regarded as a variety of bilateral hemifacial microsomia, with the vertebral defects, the rare occipital encephalocele and cleft of lip and palate presumably representing midline interaction between the 2 fields. Hemifacial microsomia is a causally non-specific developmental field complex (DFC) which usually occurs sporadically, but can also be seen as an autosomal dominant trait and as a component manifestation in the 18 trisomy syndrome. Pathogenetic and therapeutic considerations are also discussed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00496092
