Dear colleague,
We saw on 25/07/2023 in genetic consultation the child PACOMSONPER Picasso, born on 25/07/2022, in the context of monitoring a polymalformative syndrome without a known etiology to date.
Family history:
Picasso is the 5th and last child of a healthy couple. There is no known consanguinity, although the parents shared the same last name before their marriage.
He has two brothers and two sisters who are healthy.
The mother's previous deliveries occurred vaginally, at term, without complications.
Personal history:
There was no ultrasound monitoring during the pregnancy. No mention of infectious or toxic exposure during this period. Picasso was born at 39 GA with a size and weight below the 3rd percentile and a preserved HC at the 10th percentile. Apgar scores were 2/2/3 due to thoracic dysplasia with short ribs.
A first clinical examination noted the presence of a posterior palatine cleft, bilateral postaxial hexadactyly, and facial dysmorphia. Picasso was gradually weaned off respiratory assistance at three weeks of life. Oral feeding difficulties led to the placement of a nasogastric tube and subsequently a gastrostomy at two months of life.
Initial explorations:
Abdominal ultrasound: Horseshoe kidney with dilation of the pyelocaliceal cavities.
Cardiac ultrasound: Small interatrial communication with good hemodynamic tolerance.
Cerebral MRI: Thin and short corpus callosum, global gyration defect with an anteroposterior gradient.
ENT fibroscopy: Confirmed posterior palatine cleft affecting the soft palate.
Genetics: CGH-Array did not reveal chromosomal micro-rearrangements explaining the condition.
On clinical examination today:
Picasso is 1 year old. All measurements are below -4 SD. Ocular follow-up does not seem fully achieved. He does not yet babble but vocalizes. Osteotendinous reflexes are brisk, and cutaneous-plantar reflexes are bilaterally extended. Morphologically, the postaxial hexadactyly and posterior palatine cleft are noted. Additionally, there is marked hypertelorism, poorly folded ears in posterior rotation, a bulbous nasal tip, a short philtrum, and a thin upper lip. No sacral dimple is noted. The external genitalia are normal male type with descended testicles.
On the genetic level:
The trio exome study does not currently identify any pathological variant. However, the family reports a cousin with the same clinical presentation. We propose performing a genome study in Picasso and this new case to identify a possible common cause.
In summary:
Picasso presents a polymalformative syndrome with neurodevelopmental disorders without a genetic diagnosis to date. Further genome studies are planned due to the presence of another familial case.
We remain at your disposal for any further information.
Best regards,