RESUMEN
OBJECTIVES: Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients with CdLS diagnosed postnatally. Prenatal ultrasound findings include upper limb reduction defects, intrauterine growth restriction, and micrognathia. CdLS has also been associated with decreased PAPP-A and increased nuchal translucency (NT). We reviewed NIPBL sequence analysis results for 12 prenatal samples in our laboratory to determine the frequency of mutations in our cohort. METHODS: This retrospective study analyzed data from all 12 prenatal cases with suspected CdLS, which were received by The University of Chicago Genetic Services Laboratories. Diagnostic NIPBL sequencing was performed for all samples. Clinical information was collected from referring physicians. RESULTS: NIPBL mutations were identified in 9 out of the 12 cases prenatally (75%). Amongst the NIPBL mutation-positive cases with clinical information available, the most common findings were upper limb malformations and micrognathia. Five patients had NT measurements in the first trimester, of which four were noted to be increased. CONCLUSION: We demonstrate that prenatally-detected phenotypes of CdLS, particularly severe micrognathia and bilateral upper limb defects, are associated with an increased frequency of NIPBL mutations.
Asunto(s)
Síndrome de Cornelia de Lange/genética , Micrognatismo/diagnóstico por imagen , Proteínas/genética , Deformidades Congénitas de las Extremidades Superiores/diagnóstico por imagen , Proteínas de Ciclo Celular , Estudios de Cohortes , Síndrome de Cornelia de Lange/complicaciones , Síndrome de Cornelia de Lange/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Micrognatismo/etiología , Mutación , Medida de Translucencia Nucal , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Análisis de Secuencia de ADN , Ultrasonografía Prenatal , Deformidades Congénitas de las Extremidades Superiores/etiologíaRESUMEN
BACKGROUND: Vertebral artery dissection, occurring spontaneously or following a traumatic event, is a cause of posterior circulation stroke in young individuals, including pregnant women. CASE: A 20-year-old, primagravid woman acutely developed headache, right-sided hemiparesis and parasthesias, and blurred vision. Within days she complained of cervical neck pain. Magnetic resonance imaging findings were consistent with a posterior circulation cerebrovascular accident (CVA). An arteriogram, performed to exclude vasculitis, revealed bilateral vertebral artery dissection. No inciting event could be recalled. CONCLUSION: Vascular dissections occur rarely during pregnancy. Spontaneous extracranial vertebral artery dissection itself is very rare in general. Cerebral ischemia can follow vertebral artery dissection. In young patients with CVA, consideration of the diagnosis of vertebral artery dissection followed-by angiography and anticoagulation is an important component of the workup and care.
