RESUMEN
OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.
Asunto(s)
Holoprosencefalia/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Aberraciones Cromosómicas , Cara/anomalías , Femenino , Holoprosencefalia/genética , Holoprosencefalia/patología , Humanos , Recién Nacido , Masculino , Embarazo , Pronóstico , Estudios RetrospectivosAsunto(s)
Vértebras Cervicales , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Ultrasonografía Prenatal , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/patología , Femenino , Humanos , Recién Nacido , Masculino , Diagnóstico Prenatal , Factores Sexuales , Neoplasias de la Columna Vertebral/patología , Teratoma/patologíaAsunto(s)
Anomalías Múltiples/diagnóstico , Atresia de las Coanas/diagnóstico , Coloboma/diagnóstico , Retardo del Crecimiento Fetal/diagnóstico , Genitales/anomalías , Cardiopatías Congénitas/diagnóstico , Discapacidad Intelectual/diagnóstico , Anomalías Múltiples/mortalidad , Atresia de las Coanas/mortalidad , Coloboma/mortalidad , Femenino , Retardo del Crecimiento Fetal/mortalidad , Cardiopatías Congénitas/mortalidad , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/mortalidad , Masculino , PronósticoRESUMEN
The author report a new case of the syndrome described by Antley and Bixler. It concerns a female new-born who presents a craniosynostosis with brachycephaly, midface hypoplasia, unilateral choanal atresia, multiple joint contractures and arachnodactyly. There was no bowing of the femora and only the radius and the ulna were bowed. The absence of radiohumeral synostosis reported in all observations of the literature represents the main particularity of this observation.