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

H Nazer; T S Gunasekaran; N A Sakati; W L Nyhan

doi:10.1002/ajmg.1320370417

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

Am J Med Genet. 1990 Dec;37(4):516-8. doi: 10.1002/ajmg.1320370417.

Authors

H Nazer¹, T S Gunasekaran, N A Sakati, W L Nyhan

Affiliation

¹ Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

PMID: 2260598
DOI: 10.1002/ajmg.1320370417

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Consanguinity
Crigler-Najjar Syndrome / genetics*
Dwarfism / genetics*
Facial Bones / abnormalities*
Female
Genes, Recessive
Humans
Infant, Newborn
Intellectual Disability / genetics
Kernicterus / genetics*
Male
Syndrome