Abstract
This paper presents two brothers with incomplete expression of the Smith-Lemli-Opitz syndrome. A definite diagnosis, made after the birth of the second child, could only be reached when the clinical features of both patients were combined.
MeSH terms
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Chromosome Aberrations / diagnosis*
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Diagnosis, Differential
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Failure to Thrive / genetics*
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Genes, Recessive / genetics
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Genetic Counseling
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Humans
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Hypogonadism / genetics*
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Infant
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Infant, Newborn
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Male
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Microcephaly / genetics*
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Muscle Hypotonia / genetics
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Syndrome