Ms. Lubinsky et al., VON VOSS-CHERSTVOY SYNDROME - A VARIABLE PERINATALLY LETHAL SYNDROME OF MULTIPLE CONGENITAL-ANOMALIES, American journal of medical genetics, 52(3), 1994, pp. 272-278
We report 4 cases and review 7 from the literature with a pattern sugg
esting a variable early lethal multiple congenital anomaly syndrome. T
his was first reported by von Voss et al. [1979: ''Klinische Genetik i
n der Padiatrie,'' pp 70-74] and Cherstvoy et al. [1980: Lancet ii:485
], and can affect upper limbs, face, brain, heart, lungs, urogenital a
nd gastrointestinal systems, vertebrae and ribs, and can include throm
bocytopenia. The initial cases had occipital encephaloceles and phocom
elia, but milder cerebellar anomalies and radial ray defects may be se
en instead. Both sexes are affected and parental age is not increased.
This may be heterogeneous, but two consanguineous families, one with
recurrences, suggest autosomal recessive inheritance in at least some
instances, although the recurrences had milder brain findings than the
other cases. The original designation of DK-phocomelia syndrome is in
accurate, since arm findings may be limited to radial anomalies; we su
ggest instead the von Voss-Cherstvoy syndrome. This may be heterogeneo
us, but at present, phenotypic overlap prevents differentiation of sub
groups. The disorder appears to be part of a group of syndromes with r
adial and hematologic abnormalities. (C) 1994 Wiley-Liss, Inc.