Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents

Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents

We report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome.

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1992-02, Vol.42 (4), p.458-460
Hauptverfasser: Nachlieli, Tal, Gershoni-Baruch, Ruth
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - pathology
Athetosis
autosomal recessive inheritance
Biological and medical sciences
Cleft Palate
Complex syndromes
Consanguinity
Dextrocardia
Genes, Recessive
Humans
Infant, Newborn
inheritance
Intellectual Disability
Male
MCA/MR syndrome
Medical genetics
Medical sciences
mental retardation
microphthalmia
Microphthalmos
Syndrome
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Beschreibung
Zusammenfassung:We report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320420409