Abstract
We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be a recessively inherited syndrome.
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Supported in part by a Special Project Grant from the Maternal and Child Health Services, Department of Health, Education and Welfare, PHS-HSMHA-MCHS, and a National Foundation — March of Dimes Birth Defects Center Grant.
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Dinno, N.D., Shearer, L. & Weisskopf, B. Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?. Eur J Pediatr 123, 39–42 (1976). https://doi.org/10.1007/BF00497678
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DOI: https://doi.org/10.1007/BF00497678