Arch Fr Pediatr
October 1984
The authors report 7 cases of chondrodysplasia punctata in whom maternal alcohol intoxication was found. Most often, it consisted of chronic and confirmed alcoholism, except for the last case, in which an acute intoxication had occurred at about the 4th or 5th week of pregnancy. Clinically, the appearance of the children was evocative of fetal alcohol syndrome, except in the last case when, in contrast, the facial dysmorphy was very typical of chondrodysplasia punctata.
View Article and Find Full Text PDFThe authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.
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