The Coffin-Lowry syndrome: a case report and review of the literature.

BACKGROUND

Prenatal ultrasound has afforded insights into many structural and syndromic fetal disorders. In this report, the ultrasound findings were of assistance when counselling a patient who presented with a history of Coffin-Lowry syndrome (CLS).

CASE: A 39-year-old woman presented in the third trimester of pregnancy asking whether CLS could be diagnosed in utero. Three of her male offspring had been found to have this syndrome in childhood. Ultrasound assessment of the fetus was able to confirm female sex, which provided direction for counselling. An additional finding was of short and stubby digits, which have been well described as part of this syndrome. This information provided direction for pediatric management.

CONCLUSION

CLS is a rare syndrome that is typically diagnosed in childhood. To our knowledge, this is the first report of a case in which prenatal ultrasound provided assistance for counselling before delivery.