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Seckel's Bird-Headed Dwarfism*

1967; Massachusetts Medical Society; Volume: 277; Issue: 6 Linguagem: Inglês

10.1056/nejm196708102770602

1533-4406

Victor A. McKusick, M Mahloudji, Margaret H. Abbott, Richard Lindenberg, Demetrios Kepas,

Metalloenzymes and iron-sulfur proteins

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 . . .