Greig's syndrome I

Alternative eponyms

Related people

A syndrome affecting the development of the skull, face, and limbs

Description

A syndrome affecting the development of the skull, face, and limbs. It is characterized by usually postaxial polydactyly of the hands, preaxial polysyndactyly of the feet, macrocephaly, and hypertelorism. The skull has a peculiar shape characterized by a large cranial vault with a large forehead, high bregma, and occasional hypertelorism. Other features include failure to thrive, underweight for length, noisy breathing, and repeated respiratory infections (often lethal). Mental retardation is not usual. Present from birth. Etiology unknown. Autosomal dominant inheritance. The syndrome has been tentatively assigned to chromosome 7 on the basis of its association with balanced translocation involving the short arm of chromosome 7.

Bibliography

  • D. M. Greig:
    Oxycephaly. Edinburgh Medical Journal, 1926, 33: 189-218.
  • R. E. Marshall, D. W. Smith:
    Frontodigital syndrome. A dominantly inherited disorder with normal intelligence.
    Journal of Pediatrics, St. Louis, 1970, 77: 129-133.
  • R. E. Marshall, C. B. Graham, C. R. Scott, et al:
    Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder.
    Journal of Pediatrics, St. Louis, 1971, 78: 85-101.
  • D. Hootnick, L. B. Holmes:
    Familial polysyndactyly and craniofacial anomalies.
    Clinical Genetics, Copenhagen, 1972, 3: 128-134.

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