[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].
Part I - A case of acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2-year-old male child. This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence. Our patient, instead, shows a middle degree of psychomotor delay. The family pedigree confirms an autosomal dominant inheritance mode. Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and acrocephalosyndactyly syndromes is discussed. Neurosurgical assessment is mandatory in order to avoid cerebral and ocular damage due to chronically increased intracranial pressure. Part II - The Authors present some concepts on the surgical treatment of the craniofacial stenosis. A great importance is given to an early diagnosis and surgical treatment: to make this possible it is necessary to have some Hospital Centers really very specialized. The treatment of a child affected by Syndrome of Pfeiffer is described, giving more evidence to the operative technique and to its reasons.
D000168:Acrocephalosyndactylia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders / Q000209:etiology*; D011859:Radiography
Un caso di sindrome di Pfeiffer con ritardo psicomotorio. Parte I - Indagine clinico-radiologica e valutazione psicomotoria. Parte II - note sul trattamento chirurgico della sindrome di Pfeiffer e delle altre forme di craniofaciostenosi.