R. Petrella et al., LONG-TERM FOLLOW-UP OF 2 SIBS WITH LARSEN SYNDROME POSSIBLY DUE TO PARENTAL GERM-LINE MOSAICISM, American journal of medical genetics, 47(2), 1993, pp. 187-197
Larsen syndrome is a heterogeneous (autosomal dominant or recessive) d
isorder of characteristic facial changes, multiple joint dislocations,
and bone deformities. Few data on the adult presentation of the reces
sive form of this disorder have been reported; thus, we set out to des
cribe two sibs thought to be affected with autosomal recessive Larsen
syndrome who were evaluated as infants and later as adults. Aside from
secondary joint changes and the presence of cataracts, changes descri
bed in children with autosomal recessive Larsen syndrome were noted. T
hree years after evaluation, the sister gave birth to a daughter with
Larsen syndrome. This occurrence raises the possibility of germ-line m
osaicism as the mode of inheritance in this family. Thus, germ-line mo
saicism must be considered in the genetic counseling of families with
Larsen syndrome in which neither parent appears affected. These patien
ts also illustrate that despite the severe skeletal and joint deformit
ies, the prognosis can be good with careful orthopedic management. (C)
1993 Wiley-Liss, Inc.