Abstract |
We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines.
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Authors | G M Vujanic, N C Hunt |
Journal | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
(Pediatr Dev Pathol)
Vol. 3
Issue 3
Pg. 281-5
( 2000)
ISSN: 1093-5266 [Print] United States |
PMID | 10742417
(Publication Type: Case Reports, Journal Article)
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Topics |
- Arachnoid Cysts
(pathology)
- Body Constitution
- Brain
(pathology)
- Diagnosis, Differential
- Fatal Outcome
- Humans
- Infant, Newborn
- Male
- Radiography
- Short Rib-Polydactyly Syndrome
(diagnosis, diagnostic imaging, pathology)
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