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Am J Med Genet A ; 194(7): e63582, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38450833

RESUMEN

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.


Asunto(s)
Anomalías Múltiples , Ano Imperforado , Humanos , Ano Imperforado/genética , Ano Imperforado/patología , Ano Imperforado/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/diagnóstico , Femenino , Masculino , Recién Nacido , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Hernia Umbilical/diagnóstico , Hernia Umbilical/patología , Lactante , Síndrome , Cloaca/anomalías , Cloaca/patología , Hemangioma/patología , Hemangioma/diagnóstico , Hemangioma/genética , Fenotipo , Columna Vertebral/anomalías , Columna Vertebral/patología , Columna Vertebral/diagnóstico por imagen , Escoliosis
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