Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype.

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1991-09, Vol.40 (4), p.417-420
Hauptverfasser: Chitty, Lyn S., McCrimmon, Rory, Temple, I. Karen, Russell-Eggitt, Isobel M., Baraitser, Michael
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple
absent eye muscles
Anterior Chamber - abnormalities
Axenfeld-Rieger anomaly
Biological and medical sciences
Bone and Bones - abnormalities
Complex syndromes
Face - abnormalities
Female
Genes, Dominant - genetics
Humans
Hydrocephalus - genetics
Infant, Newborn
Male
Medical genetics
Medical sciences
Möbius sequence
Oculomotor Muscles - abnormalities
Phenotype
skeleton
Syndrome
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Beschreibung
Zusammenfassung:We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320400407