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Apert-Crouzon syndrome

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A rare form of Carpenter's syndrome (acrocephalopoysyndactyly), this congenital syndrome combines features of the Apert syndrome with those of the Crouzon syndrome.

Condition characterized by cranial deformity (oxycephaly) craniosynostosis, cranial synostosis, premature closure of the cranial sutures, hypertelorism, proptosis, optical atrophy, exophthalmus, divergent strabismus, maxillary hypoplasia, prognathism, a beaked nose and hypoplasia of the maxilla, fusion of the fingers with single nails and short broad thumbs, thus giving the hands a mitten-like appearance, and short higher extremity. It is associated with facial characteristics of Crouzon’s facies. Mental retardation, cleft palate and increased intracranial pressure can occur. Most cases are sporadic, representing new mutations. Autosomal dominant and recessive cases reported. Old paternal age.

There is some disagreement among authorities (e.g. McKusick) whether this syndrome represents an independent entity. According to others (e.g. Spranger, Langer, and Wiedemann), this is a poorly documented disorder,


  • E. Apert:
    De l'acrocéphalosyndactylie.
    Bulletin des Membres de la Société des Médecins des Hôpitaux de Paris, 1906, 23: 1310.
  • L. E. O. Crouzon:
    Dysostose cranio-faciale héréditaire. Bulletins et mémoires de la Société des Médecins des Hôpitaux de Paris, 1912, 3 sér, 33: 545-555. Dysostose cranio-faciale héréditaire.
    Presse médicale, Paris, 1912, 20: 737-739.
  • A. Vogt:
    Dyskephalie (Dysostosis craniofacialis, Maladie de Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extremitäten (Dyskephalodaktylie).
    Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1933, 90: 441-454.
  • V. A. McKusick:
    Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.
    5th edition. Baltimore, The Johns Hopkins University Press, 1978, p. 7 (No. 10130).
  • J. W. Spranger, L. O. Langer, H. R. Wiedemann:
    Bone dysplasias. Philadelphia, Saunders, 1974, page 261.

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