Abstract
Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene.
MeSH terms
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Anorexia
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Cachexia
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Chromosomes, Human, Pair 18
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Diagnosis, Differential
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Eye Abnormalities
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Facies
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Fatal Outcome
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Fetal Growth Retardation / diagnosis*
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Fetal Growth Retardation / ethnology
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Fetal Growth Retardation / genetics
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Humans
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Infant, Newborn
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Male
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Methyltransferases / genetics
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Nuclear Proteins / genetics
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Psychomotor Disorders / diagnosis*
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Psychomotor Disorders / ethnology
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Psychomotor Disorders / genetics
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Skin Diseases
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Trisomy
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Trisomy 18 Syndrome
Substances
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Nuclear Proteins
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EMG1 protein, human
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Methyltransferases
Supplementary concepts
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Bowen-Conradi syndrome
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FACES syndrome