Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents

Clinical anophthalmia; unusual facies (sloping forehead, prominent nasal root and bridge, large pinnae, mild micrognathia); dextrocardia; vertebral fusion defects; supernumerary ribs; and normal growth and development in infancy.

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1990-10, Vol.37 (2), p.178-181
1. Verfasser: Aughton, David J.
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Anophthalmos - genetics
Biological and medical sciences
Bone and Bones - abnormalities
Complex syndromes
Consanguinity
Dextrocardia - genetics
Face - abnormalities
Humans
Infant, Newborn
Male
Medical genetics
Medical sciences
multiple congenital anomalies
Ribs - abnormalities
Spine - abnormalities
Syndrome
vertebral/ rib anomalies
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Beschreibung
Zusammenfassung:Clinical anophthalmia; unusual facies (sloping forehead, prominent nasal root and bridge, large pinnae, mild micrognathia); dextrocardia; vertebral fusion defects; supernumerary ribs; and normal growth and development in infancy.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320370204