von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

doi:10.1002/ajmg.1320520305

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Article

von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

American journal of medical genetics - 1 Sept 1994

Lubinsky M S, Kahler S G, Speer I E, Hoyme H E, Kirillova I A, Lurie I W

Abstract excerpt

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 u...

Topics

Abnormalities, Multiple
Consanguinity
Ectromelia
Encephalocele
Female
Genes, Lethal
Genes, Recessive
Humans
Infant, Newborn
Male
Phenotype
Syndrome
Thrombocytopenia

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