Dear Colleague,
Together with Dr. DE LA RONDE, a neurologist at CRDI, we met with Mrs. MARIE AUDET, born on 07/01/2001, to resume the etiological assessment in the context of a neurodevelopmental disorder associated with intellectual deficiency and malformative elements such as equinovarus feet and coloboma.
She is the first child in a sibling of four with two younger brothers and one sister, all apparently in good health. The parents, present on the day of the consultation, are also in good health and report a distant familial link since two great-grandmothers are sisters.
Regarding Marie, we reviewed the main elements of her history:
- A pregnancy without particularities, with no mention of medication or toxic substance use, and no infection noted.
- A term delivery with good adaptation to extrauterine life. Birth measurements are normal with a weight of 2.95 kg, a height of 49 cm, and a head circumference at the lower limit of normal at 31 cm.
- Immediately noted were equinovarus feet and a malformation of the right ear, in the form of microtia.
- From the first months, insufficient growth of the head circumference was noted, with an assessment performed in Montpellier whose results I do not have.
- She will evolve with global deficiency since walking was acquired at 27 months, and language consists of small phrases with some words and fairly stereotyped gestures.
- Additionally, she had generalized epilepsy starting at the age of four, responding well to Depakine but with new seizures during attempts to stop.

On examination today, she weighs 51 kg, is 160 cm tall, and has a head circumference of 49 cm. The morphological examination is marked by significant microcephaly (around -4 DS), malformation of the left ear, very thin feet (with surgical scars on her equinovarus feet). In the hands, marked camptodactyly is noted, especially on the left. Furthermore, the neurological examination is perfectly normal.
In total, I first propose to the parents to retrieve the etiological assessment already performed to ensure the absence of maternal-fetal infection and chromosomal imbalance (array CGH performed?) in the context of this syndromic intellectual deficiency. Secondarily, we could consider more advanced genetic examinations with new techniques available to us, such as exome sequencing. This would require a sample from Marie and her two parents.
Best regards.