PubMed · 1802847
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S Chandran, L Krishnan, G G Christo. 1991. Sirenomelia sequence.. https://pubmed.ncbi.nlm.nih.gov/1802847/
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In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.
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Splenic gonadal fusion is a rare anomaly that is frequently associated with skeletal abnormalities. Although rare, this entity should be considered in the differential diagnosis of scrotal masses in children. Routine frozen section prevents unnecessary orchiectomy. We describe a child with limb anomalies in whom splenic gonadal fusion presented as an incarcerated inguinal hernia.