Dear Colleague,
I met with your patients Mrs. Marine GADBOIS, born GALARNEAU on 17/12/1957, and her partner Mr. Artus GADBOIS born on 24/08/1960, in a genetics consultation on 18/07/2023.
I am meeting them as part of a family investigation because I know their daughter Pensée and their granddaughter Gabrielle.
I had initially met Gabrielle, who presents bilateral Madelung deformity for which genetic examinations were performed that identified a variant of unknown significance in the form of a duplication upstream of the SHOX locus currently described. This duplication was subsequently found in Gabrielle's mother.
Mr. and Mrs. GADBOIS brought me radiographs of Pensée that I will have read carefully.
Regarding the grandparents, they are here to continue the family investigation to try to clarify the pathogenicity of this variant or not. I had also requested complete sequencing of the gene from the Nantes laboratory to ensure that we do not overlook a more known variant.
Regarding Mr. and Mrs. GADBOIS, they are both in good health.
Mr. GADBOIS has a history of lumbar compression fracture from a car accident and an older operated ankle fracture. He would have benefited from a sub-normal DMO. He underwent a radiographic assessment today that will be interpreted later, but I am already looking; he presents somewhat short femoral necks, an interpedicular widening in the lumbar region that seems correct, and no obvious Madelung deformity.
He measures 1.68 m but previously measured 1.74 m with a wingspan of 1.72 m. There is no Madelung deformity, nor any limitation of pronation-supination.
Regarding Mrs. GADBOIS, she has a history of osteoarthritis in both hips treated with prostheses.
She measures 1.51 m but previously measured 1.55 m with a wingspan of 146 cm (E/T 0.94 if we take into account the previous height); she presents a right wrist deformity that she had not previously noticed, which does not hinder pronation-supination and is not painful, which could correspond to a minimal Madelung deformity. Nothing else to report. On her radiographs, which are also being interpreted, we find fairly short femoral necks; it is difficult to interpret the interpedicular widening as the X-ray is somewhat obscured by osteoarthritis. A narrow lumbar canal is not completely excluded.
Regarding the forearm radiographs, the bone relationships are quite atypical on the right with possibly a slight fork-like deformity at that level, and I am therefore awaiting the official interpretations.
Discussion and conclusion:
I met today with Mr. and Mrs. GADBOIS, whose daughter and granddaughter present a variant of unknown significance in the SHOX gene, this gene being suspected in the presence of bilateral Madelung deformity in their granddaughter.
In the family, it does not seem that height is very significantly affected, and it is also quite possible that some individuals carry a mutation without having a Madelung deformity, which makes interpretations and genotype-phenotype correlations difficult.
Nevertheless, there are some arguments in Mrs. GADBOIS for suggesting a right Madelung deformity and an involvement of the SHOX gene causing a height of -2 DS.
Both members of the couple agree to undergo a blood test today; we will contact them with the results. We will also have the results of the complete sequencing in the meantime, and I will have the radiographs reinterpreted as well.
I remain at the disposal of Mr. and Mrs. GADBOIS if needed.
Best regards.