LUMBAR syndrome-OEIS complex overlap: A case series and review.
Am J Med Genet A
; 194(7): e63582, 2024 07.
Article
em En
| MEDLINE
| ID: mdl-38450833
ABSTRACT
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
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Anormalidades Múltiplas
Limite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article