Concurrence of robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins

Robinow syndrome and Crigler‐Najar syndrome were encountered in 2 Saudi offspring of first cousins. Both died at age 4 months. The parents lost 2 previous children at age 2 months with progressive jaundice but without fetal facial characteristics.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1990-12, Vol.37 (4), p.516-518
Hauptverfasser:	Nazer, Hisham, Gunasekaran, Thirumazhisai S., Sakati, Nadia A., Nyhan, William L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple autosomal recessive inheritance Biological and medical sciences Consanguinity Crigler-Najjar Syndrome - genetics Diseases of the osteoarticular system Dwarfism - genetics Facial Bones - abnormalities Female fetal face syndrome Genes, Recessive Humans Infant, Newborn Intellectual Disability - genetics Kernicterus - genetics Male Medical sciences Syndrome
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Beschreibung
Zusammenfassung:	Robinow syndrome and Crigler‐Najar syndrome were encountered in 2 Saudi offspring of first cousins. Both died at age 4 months. The parents lost 2 previous children at age 2 months with progressive jaundice but without fetal facial characteristics.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320370417