Résumé
Limb body wall complex (LBWC) is a rare clinicopathological entity, representing a compound anomaly pattern in ventral body wall defects. The authors report a case of LBWC diagnosed in early antenatal period. The pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical of LBWC.
Sujets)
Paroi abdominale/malformations , Malformations multiples/anatomopathologie , Foetus avorté/anatomopathologie , Avortement eugénique , Adulte , Femelle , Humains , Anomalies morphologiques congénitales des membres/anatomopathologie , Mâle , Grossesse , Échographie prénataleRésumé
OBJECTIVE: Hemihyperplasia is a heterogenous group of disorders characterized by asymmetric limb growth. There is considerable confusion regarding their classification and ascertainment into various syndromes. We tried to look into the various aspects of hemihyperplasia syndromes. METHODS: Records of 17 consecutive cases of hemihyperplasia were reviewed and were ascertained into various syndromes based on available literature and diagnostic criteria. RESULTS: Of the 17 cases with hemihyperplasia, 3 cases satisfied the diagnostic criteria for Proteus syndrome. One patient each was ascertained as Klippel Trenaunay Weber syndrome and Hemihyperplasia- Multiple lipomatosis. 9 cases were classified as isolated hemihyperplasia. We found two novel associations with hemihyperplasia; namely Ehlers-Danlos syndrome like skin changes and Poland anomaly on the affected side. The remaining 3 cases had miscellaneous disorders with limb asymmetry, namely Neurofibromatosis Type I in 2 cases and Olliers disease in one case. CONCLUSION: Efforts to diagnose syndromes of hemihyperplasia help in genetic counseling.