RESUMO
We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located. Ultrasonographic detection is difficult, based on the following signs: brachycephalic skull (unusually detected), flat facial profile with a nasal bridge depression, tall appearance of the forehead (inconstant), total bilateral and symmetrical syndactylies of the hands and feet. At last we present our arguments for medical abortion, when this disorder is detected.
Assuntos
Aborto Terapêutico , Acrocefalossindactilia/diagnóstico por imagem , Acrocefalossindactilia/terapia , Ultrassonografia Pré-Natal , Acrocefalossindactilia/genética , Acrocefalossindactilia/patologia , Feminino , Genes Dominantes , Humanos , GravidezRESUMO
Nineteen patients, 15 women, 4 men, mean age 65 years, were treated for pseudomyxoma peritonei between 1971 and 1991. The clinical onset was generally insidious, predominant signs being ascites (9 cases), a mass (9 cases), distension (8 cases) and abdominal pain (8 cases). Diagnosis was assisted by scan imaging and alteration in serum ACE levels. The initial mucosecreting tumor was appendicular (12 cases), ovarian (11 cases) or both (4 cases). Histology was benign in 17 of the 19 patients. After surgical treatment in all cases, 10 patients relapsed, global survival at 5 years being 65% and at 10 years 49%.