L-M-B SYNDROME AND EUGENICS (WITH 82 CASES COMPREHENSIVE REPORT)

Bai X-Z, Zhang W-S, Cui L-W, Feng B, Li S-L

The First Medical College of Harbin Medical University, China

 

Clinical Data: Now we have comprehensively reported 82 Cases Laurence-Moon-Biedl Syndrome (LMBS) in total, 71 cases LMBS from 1954 in our country and 11 cases in our hospital, male 61 cases, female 21, aged between 9 months and 30 years, with family history 37 cases, with parent consanguineous marriage 23 cases. The primary clinical manifestations were obesity 75 cases (91.46%), mental retardation 77 (93.90%), retinal pigmentum denaturation 68 (82.93%), sexual gland hypoplasia 11(86.59%), multipollicalism (multihallucalism) 68 (82.93%) and others 36 cases (43.90%).

Discussion: According to the standards of Klein and Amman (1969), these cases were divided into several types: complete type 32 cases, incomplete 23 cases, extensive 14 cases, atypical 2 cases, without records in detail 7 cases and no abortive type. We have compared the frequency of LMBS main symptoms with external related data. It was showed that the appearance frequency of sexual gland hypoplasia in our country was higher than abroad and that of obesity a little lower (p<0.01). Among these LMBS cases, there were other malformations: kidney (7.5%), cardiovascular system (6.6%) and cranium, face, spine, extremity deformity 10 cases .The blood samples of 9 cases have made karyotype analysis and showed normal karyotype. Seeing that 23 of 82 cases (28.05%) with parent consanguineous marriage and 27 (45.12%) with family history, we should continuously emphasize the prohibition of consanguineous marriage.

 
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