The Lactation College on Substack

The Lactation College on Substack

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The Lactation College on Substack
The Lactation College on Substack
What's the diagnosis? - Flattened facial profile, head lag, single palmar crease
What's the diagnosis?

What's the diagnosis? - Flattened facial profile, head lag, single palmar crease

March 11, 2025

Barbara L. Philipp, MD's avatar
Barbara L. Philipp, MD
Mar 11, 2025
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The Lactation College on Substack
The Lactation College on Substack
What's the diagnosis? - Flattened facial profile, head lag, single palmar crease
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What’s the diagnosis? - flattened facial profile, head lag, single palmar crease

The answer is Down syndrome.

Down Syndrome is a genetic condition that occurs when a person is born with an extra copy of chromosome 21. This means they have a total of 47 chromosomes instead of 46.

Karyotype of a patient with Trisomy 21 showing the extra copy of chromosome 21.

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