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Medical Note

Dear Colleague,

Thank you for referring [FIRST NAME LAST NAME], born on [DD/DD/DDDD], for a genetics consultation, accompanied by her parents. [FIRST NAME] is being followed for global developmental delay associated with behavioral difficulties.
[FIRST NAME] is the only child of the couple. The mother has a 10-year-old son from a previous relationship who is in good health and has had no developmental issues. The parents are not related. The father is in good health. A nephew has an autism spectrum disorder and is being followed at the Early Medical and Social Action Center (CAMSP). The mother is in good health, with no significant medical history.
During pregnancy, increased nuchal translucency was noted, but no other anomalies were detected on ultrasound follow-ups. She was born at term with normal measurements.
Psychomotor delay is evident, with independent sitting achieved at 15 months and walking at 3 years, requiring physical therapy. In terms of language, she can currently repeat a few words but is not yet forming sentences. Behaviorally, she exhibits significant hyperactivity and attention difficulties. She has never experienced epileptic seizures.

At 4 years old, [FIRST NAME] weighs 12 kg (below -2 SD), with a height of 99 cm (-1 SD) and a head circumference of 46.5 cm (-2.5 SD). Distal hyperlaxity is observed. No cardiac murmurs were detected. Morphological features include low-set, posteriorly rotated ears, epicanthus, and a prominent nasal bridge.
[FIRST NAME] presents with global developmental delay, behavioral disorders, and microcephaly. There is no precise etiological diagnosis at this time, and a trio exome sequencing is proposed. Both parents have been sampled today for this analysis.
The family will be informed as soon as the results are available.

Best regards.

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