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von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
Am J Med Genet. 1994 Sep 01; 52(3):272-8.AJ

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.

Authors+Show Affiliations

Department of Pediatrics, Medical College of Wisconsin, Milwaukee 53201.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

7810558

Citation

Lubinsky, M S., et al. "Von Voss-Cherstvoy Syndrome: a Variable Perinatally Lethal Syndrome of Multiple Congenital Anomalies." American Journal of Medical Genetics, vol. 52, no. 3, 1994, pp. 272-8.
Lubinsky MS, Kahler SG, Speer IE, et al. Von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. Am J Med Genet. 1994;52(3):272-8.
Lubinsky, M. S., Kahler, S. G., Speer, I. E., Hoyme, H. E., Kirillova, I. A., & Lurie, I. W. (1994). Von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. American Journal of Medical Genetics, 52(3), 272-8.
Lubinsky MS, et al. Von Voss-Cherstvoy Syndrome: a Variable Perinatally Lethal Syndrome of Multiple Congenital Anomalies. Am J Med Genet. 1994 Sep 1;52(3):272-8. PubMed PMID: 7810558.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. AU - Lubinsky,M S, AU - Kahler,S G, AU - Speer,I E, AU - Hoyme,H E, AU - Kirillova,I A, AU - Lurie,I W, PY - 1994/9/1/pubmed PY - 1994/9/1/medline PY - 1994/9/1/entrez SP - 272 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 52 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7810558/von_Voss_Cherstvoy_syndrome:_a_variable_perinatally_lethal_syndrome_of_multiple_congenital_anomalies_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=3&spage=272 DB - PRIME DP - Unbound Medicine ER -