von Voss‐Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies

Abstract

We report 4 cases and review 7 from the literature with a pattern suggesting a variable early lethal multiple congenital anomaly syndrome. This was first reported by von Voss et al. [1979: "Klinische Genetik in der Pädiatrie," pp 70-74] and Cherstvoy et al. [1980: Lancet ii:485], and can affect upper limbs, face, brain, heart, lungs, urogenital and gastrointestinal systems, vertebrae and ribs, and can include thrombocytopenia. The initial cases had occipital encephaloceles and phocomelia, but milder cerebellar anomalies and radial ray defects may be seen 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 inaccurate, since arm findings may be limited to radial anomalies; we suggest instead the von Voss-Cherstvoy syndrome. This may be heterogeneous, but at present, phenotypic overlap prevents differentiation of subgroups. The disorder appears to be part of a group of syndromes with radial and hematologic abnormalities.

von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

“…The presence of thumbs despite absent radii is a characteristic of TAR syndrome [Hall, 1987]. This finding was also present in our patient and in other von Voss-Cherstvoy syndrome patients [Cherstvoy et al, 1980;Bird et al, 1994;Lubinsky et al, 1994;Bamforth and Lin, 1997]. In contrast with von Voss-Cherstvoy, lower limbs are affected in about 50% of cases of TAR syndrome [Greenhalgh et al, 2002] and no brain malformations or sexual differentiation defects have been reported.…”

“…All reported cases have been sporadic and both sexes have been affected. Parental consanguinity reported by Lubinsky et al [1994] suggests an autosomal recessive pattern of inheritance. All previously reported cases of von Voss-Cherstvoy syndrome have had apparently normal chromosomes except for that described by Bamforth and Lin [1997] with mosaicism for a deletion of 13q12 in fibroblasts.…”

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

“…Voss-Cherstvoy Syndrome, and Cerebro-Cardio-Radio-Reno-Rectal ''Community'' DK-phocomelia (von Voss-Cherstvoy syndrome) [Lubinsky et al, 1994] comprises occipital encephalocele (OE) and a group of malformations similar to those of VACTERL-H (Table III). The comparison of the frequency of abnormalities in familial forms of VACTERL-H and in the DK-phocomelia syndrome shows the same spectrum and frequency of all studied congenital defects in both groups.…”

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

“…Infants with the syndrome described by von Voss and Cherstvoy, sometimes called DK-phocomelia syndrome, have been described with occipital defects only in conjunction with meningoencephaloceles [Cherstvoy et al, 1980;Lubinsky et al, 1994]. Kosaki et al described an infant with tetraphocomelia, severe ear and nasal hypoplasia, cleft palate and imperforate anus (Zimmer phocomelia) [Kosaki et al, 1996].…”