New England Journal of Medicine · 1967 · 58 citations · 16 references
MedicineEndocrinologyGeneticsCraniofacial GeneticsEyelid DisordersHuman GeneticsCongenital Cranial AnomaliesCongenital Eye AnomaliesCongenital Head AnomaliesCongenital Neck AnomaliesAutosomal Recessive InheritanceBeak Developmental AnomaliesBeak Growth AbnormalitiesCongenital Beak MalformationDisorderDwarfism SyndromesLower Jaw Development
SECKEL1 described 2 unrelated patients with a condition for which he used Virchow's designation "bird-headed dwarf." Although some of the dwarfs previously reported whom he accepted as examples of the same entity may have had a different disorder, he performed the useful service of calling attention to a specific type of dwarfism with mental retardation. In addition to autosomal recessive inheritance, other features include low birth weight, small head, with large eyes, beaklike protrusion of the nose, narrow face and receding lower jaw, and multiple malformations.The purpose of this report is to describe a family in which 3 of . . .
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Heritable Disorders of Connective Tissue
Victor A. McKusick · Postgraduate Medical Journal · 1960 · 1.5K citations
CONGENITAL FAMILIAL NONHEMOLYTIC JAUNDICE WITH KERNICTERUS
John F. Crigler, Victor A. Najjar · PEDIATRICS · 1952 · 552 citations
R. Neil Schimke · JAMA · 1965 · 250 citations