PubMed · 2596093
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G Stefanov. 1989. [Interdisciplinary problems in nephrology].. https://pubmed.ncbi.nlm.nih.gov/2596093/
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OBJECTIVE: To establish early postnatal norms for the main measurements of the soft-tissue orbits for the Slavic Bulgarian population (9 million), we measured intercanthal (en-en) and biocular width (ex-ex) and length of the palpebral fissures (ex-en) in a representative sample of newborns less than six days old. METHOD: Eye measurements were taken with a sliding caliper from randomly chosen subjects by the senior author using standard anthropometric methods. Findings were compared to those published for other Caucasian ethnic groups of infants (Germans and two groups of North American Caucasians). RESULTS: The mean values of all three soft orbital measurements were greater in newborn Bulgarian boys than girls. Measurements of Bulgarian intercanthal width (en-en) were greater in both sexes but those of biocular width (ex-ex) and palpebral fissure length (ex-en) were less than those that have been reported for North American Caucasian infants. Bulgarian intercanthal and biocular measurements were wider than German babies in both sexes. Differences, although small, were statistically highly significant but greatly influenced by differing sample sizes and subject age among the four Caucasian populations. CONCLUSION: Anthropometric differences between ethnic groups of Caucasians already exist shortly after birth. Knowledge of the soft orbital data in early stages of the postnatal development in healthy populations is essential for determination in individuals of deviations from normal data. These Bulgarian norms can be helpful in anthropometric studies of the ethnically mixed Caucasian populations of North America.
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All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype-genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype.