Hereditary Microphthalmia With Colobomatous Cyst

We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal re...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of ophthalmology 1992-07, Vol.114 (1), p.30-34
Hauptverfasser:	Porges, Yair, Gershoni-Baruch, Ruth, Leibu, Rina, Goldscher, Dorith, Zonis, Shlomo, Shapira, Israel, Miller, Benjamin
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child Coloboma - diagnosis Coloboma - genetics Consanguinity Cysts - diagnosis Cysts - genetics Female Fetal Diseases - diagnosis Humans Infant, Newborn Life Sciences & Biomedicine Male Malformations of the eye Medical sciences Microphthalmos - diagnosis Microphthalmos - genetics Ophthalmology Orbit - abnormalities Pedigree Pregnancy Prenatal Diagnosis Science & Technology Tomography, X-Ray Computed
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.
ISSN:	0002-9394 1879-1891
DOI:	10.1016/S0002-9394(14)77409-4