RESUMEN
The absence of a definitive genetic test for the autosomal recessive condition Schinzel-Giedion syndrome is a significant handicap to the recognition of this disorder. Radiological features have been an important aspect of many of the published cases. In a series of six cases, we now establish a consistency among many of the radiological features in affected cases which will be an important diagnostic aid in identifying future cases. This is confirmed by reference to an extensive review of previously published instances of the syndrome. Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Anomalías Craneofaciales/diagnóstico por imagen , Anomalías Múltiples/diagnóstico , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/diagnóstico , Femenino , Dedos/anomalías , Dedos/diagnóstico por imagen , Humanos , Hipertricosis/etiología , Lactante , Recién Nacido , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/etiología , Masculino , Uñas Malformadas/etiología , Huesos Pélvicos/anomalías , Huesos Pélvicos/diagnóstico por imagen , Radiografía , SíndromeRESUMEN
Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the "classical" presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.
Asunto(s)
Canal Anal/anomalías , Enfermedades del Ano/complicaciones , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/diagnóstico , Enfermedades del Ano/diagnóstico , Enfermedades del Ano/genética , Ano Imperforado/complicaciones , Ano Imperforado/diagnóstico , Ano Imperforado/genética , Constricción Patológica/complicaciones , Constricción Patológica/diagnóstico , Constricción Patológica/genética , Síndrome de DiGeorge/genética , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Lactante , Enfermedades RarasRESUMEN
We report a 7-day-old boy referred to our institution with tachypnea and cardiomegaly who was discovered to have an intrapericardial extra-lobar pulmonary sequestration containing a cystic pulmonary adenomatoid malformation type II. He underwent successful surgical resection of the intrapericardial mass, which we believe represents the first reported case of this rare entity.