[A case of Apert's syndrome].
The main features of acrocephalosyndactyly (Apert's syndrome) are described. Early closure of the coronal suture leads to the vertical development of the cranium (turricephaly), with flattening of he frontal and occipital bones. In the neonate. the anterior fontanelle extends from the glabella to the posterior fontanelle. The face takes on a flat appearance, the root of the nose is inset and there are abnormalities of the orbital cavity (hypertelorism, exophthalmos, oculomotor paralysis, optic atrophy). The palate is high and deep. Malformations of the extremities consist primarily in more or less complete syndactyly (usually characterised by the presence of a single ungueal lamina), with spoon-shaped hands and spatulate feet. Impairment of intelligence is often observed. Pathogenetically speaking, the syndrome may be sporadic or familial. Treatment is briefly described and an account of a sporadic-type personal case is given. Reference is also made to the relationship between Apert's and Crouzon's syndrome and to a prior description of two familial cases of the latter disase.
Spada
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A
Ospedale Civile S. Croce di Cuneo, Divisione Pediatrica.
Pejrone
F
F
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype