RESUMO
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
Assuntos
Artrite/genética , Fenda Labial/genética , Fissura Palatina/genética , Doenças do Tecido Conjuntivo/genética , Perda Auditiva Neurossensorial/genética , Síndrome de Pierre Robin/genética , Descolamento Retiniano/genética , Artrite/diagnóstico por imagem , Artrite/mortalidade , Artrite/patologia , Criança , Pré-Escolar , Fenda Labial/diagnóstico por imagem , Fenda Labial/mortalidade , Fenda Labial/patologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/mortalidade , Fissura Palatina/patologia , Doenças do Tecido Conjuntivo/diagnóstico por imagem , Doenças do Tecido Conjuntivo/mortalidade , Doenças do Tecido Conjuntivo/patologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/mortalidade , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Masculino , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/mortalidade , Síndrome de Pierre Robin/patologia , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/mortalidade , Descolamento Retiniano/patologia , Estudos RetrospectivosRESUMO
OBJECTIVE: The aim of this study was to assess the opinion of obstetric care providers who perform prenatal ultrasounds to screen for anomalies and who advise women about their options, including termination of pregnancy, when an oral cleft is detected. We compared providers' opinions about pregnancy termination for isolated oral cleft in The Netherlands, where the number of terminations is low, and in Israel, where the number is high. METHODS: Online questionnaires were used. The questions assessed the providers' views regarding the estimated burden of treatment, the functioning ability, and the level of happiness of children with an oral cleft and their parents. Additionally, we assessed providers' opinions on pregnancy termination for isolated oral cleft. RESULTS: In The Netherlands, more professionals considered oral cleft a disability (rate differences 17.8%, 95% confidence interval: 0.5-33.1%) than in Israel. In the Netherlands, 10.6% of respondents (compared with 11.1% in Israel) thought that an isolated cleft was a reason for terminations of pregnancy (TOP) (rate differences 0.6%, 95% confidence interval: -12% to 10.9%). CONCLUSIONS: Prenatal care providers in The Netherlands and Israel do not differ in their opinions about the severity of oral cleft and the acceptability of TOP for an isolated oral cleft. This study shows that prenatal care providers' attitudes do therefore not explain the dramatic difference between these countries in the number of TOP for isolated oral cleft.