Gender and year of birth
Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, obstructive sleep apnea requiring non-invasive ventilation at night, constipation, delayed emptying of stomach, nausea, , food allergies, bilateral cryptorchidism, short stature, osteopenia with fractures.
Symptoms / Signs
- Developmental delays: first able to stand at 2,5 years of age, cruised (walked holding on furniture) at 4 years. Because of leg fractures (3 in total, at ages 1, 2 and 13 years) does not walk anymore, mainly because of fear and pain.
- Non-invasive ventilation at night, needs manual assistance when stooling. Medications include Nexium (esomeprazole for reflux), Gaviscon (antacid), Calcium supplements and IV Pamidronate for osteopenia, Forlax (macrogol laxative), antihistamine.
- Several surgeries: e.g. bilateral orchidopexy for undescended testes, tympanostomy tube placement, Achilles tendon surgery
- Surgerical correction of scoliosis not performed because of several contraindications: osteopenia, expected very long rehabilitation, and risks of anesthesia for pulmonary function
Previously Considered Diagnoses
- Not applicable
Genetic Variants of Interest
- whole exome sequencing trio: CSMD2 Chr1(GRCh37):g.34023366C>T; NM_001281956.1:c.8711G>A (p.Gly2904As) heterozygous, de novo variant, interpreted as variant of unknown significance. DA2B, FSS, MYH3 testing negative. SNP array negative.
Siblings, age & gender
Girl, 10 years
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Marc likes to make fun. On television, I like to watch Monster jam, Dakar and tractor pulling. I like to play with Monster Jams 1:64