Coffin's syndrome II

Related people

A familial syndrome of low birth weight, retarded growth and motor development, mental retardation, slender habitus, and characteristic facies.

Description

A familial syndrome of low birth weight, neonatal cyanosis and a tendency to respiratory infections, retarded growth and motor development, mental retardation, slender habitus, joint laxity, spastic teraplegia, convulsions, and characteristic facies with prominent eyes and forehead, infantile lips, and low set simplified external ears. The child is sitting at age 3 or later and unable to stand or speak. Both sexes affected.

Bibliography

  • G. S. Coffin:
    A syndrome of retarded development with characteristic appearance.
    American Journal of Diseases of Children, Chicago, 1968, 115: 698-702.

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