Weismann-Netter syndrome and mental retardation: a new patient and review of the literature.

In 1954, Weismann-Netter and Stuhl described three sporadic adults and a mother and her three children with short stature and congenital anterior bowing of lower legs [Weismann-Netter and Stuhl (1954); Presse Méd 62:1618-1622]. They named the condition "toxopachyostéose diaphysaire tibio-péronière," which presently is known as Weismann-Netter syndrome (WNS) (OMIM 112350). Since then more than 100 patients have been published. Nearly all have been case reports in French medical literature, and the first report in the Anglo-American literature appeared in 1988. Only a minority of the publications have appeared during the past two decades. The diagnostic findings of WNS are anterior bowing of the diaphyses of tibia and fibula, broadening or "tibialization" of the fibula and posterior cortical thickening of the two bones. Also the diaphyses of other long bones may be similarly affected but usually to a milder degree. The cause of the condition is unknown, but frequent familial cases suggest a genetic defect with autosomal dominant inheritance. Several of the WNS patients have also had mental retardation (MR), but the existence of a WNS-MR syndrome is still pending. We describe a sporadic patient with typical WNS skeletal findings and MR. He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature.