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McNaughton Pz, Rodman Og (1980)
Apert's syndrome.Cutis, 25 5
L. Solomon, D. Fretzin, S. Pruzansky (1970)
Pilosebaceous abnormalities in Apert's syndrome.Archives of dermatology, 102 4
C. Blank (1959)
Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*Annals of Human Genetics, 24
K. Pflanzer (1978)
Apert's syndrome.Radiologia clinica, 47 4
S. Margolis, I. Siegel, A. Choy, G. Breinin (1978)
Depigmentation of hair, skin, and eyes associated with the Apert syndrome.Birth defects original article series, 14 6B
Blank CE (1950)
Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of 39 casesAnn Hum Genet, 24
Escobar V Bull MJ (1979)
Phenotype definition and recurrence risk in acrocephalosyndactyly syndromesBirth Defects, 15
V. Escobar, D. Bixler (1977)
On the classification of the acrocephalosyndactyly syndromesClinical Genetics, 12
McKusick VA (1975)
Mendelian Inheritance in Man
Abstract Apert's syndrome (acrocephalosyndactyly) is inherited in an autosomal dominant fashion and is characterized by synostosis of the feet, hands, carpi, tarsi, cervical vertebrae, and skull. Craniofacial deformity results from early and irregular obliteration of the cranial sutures. The cranium is broad and high, with the highest point of the vault near or anterior to the bregma. The occiput is generally inconspicuous, and the back of the head is flattened. The forehead is prominent and more vertical than is normal. Swelling of the bregma results in a deep, transverse groove above the supraorbital fissures. The maxilla is hypoplastic, the face flattened, the upper jaw retrognathic, and the lower jaw relatively prognathic. Protrusion of the eyeballs, increased distance between the eyes (ocular hypertelorism), and strabismus are frequently notable. The outer canthi lie on a lower plane than the inner canthi, giving an outward and downward slant to the palpebral fissures. The nose References 1. Blank CE: Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of 39 cases . Ann Hum Genet 1950;24:151-163.Crossref 2. Margolis S, Siegel IM, Choy A, et al: Depigmentation of hair, skin, and eyes associated with the Apert's syndrome . Birth Defects 1978;14:341-360. 3. Solomon LM, Fretzin D, Pruzansky S: Pilosebaceous abnormalities in Apert's syndrome . Arch Dermatol 1970;102:381-385.Crossref 4. McNaughton PZ, Rodman OG: Apert's syndrome . Cutis 1980;25:538-540. 5. McKusick VA: Mendelian Inheritance in Man , ed 4. Baltimore, Johns Hopkins University Press, 1975, p 6. 6. Escobar V, Bixler D: On the classification of the acrocephalosyndactyly syndromes . Clin Genet 1977;12:169-178.Crossref 7. Bull MJ, Escobar V, Bixler D, et al: Phenotype definition and recurrence risk in acrocephalosyndactyly syndromes . Birth Defects 1979;15:65-74. 8. Pflanzer K: Apert's syndrome . Radiol Clin North Am 1978;47:233-238.
Archives of Dermatology – American Medical Association
Published: Mar 1, 1982
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