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Spinal Abnormalities
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Caudal regression can vary in severity from partial sacral agenesis to complete absence of the lumbosacral spine. In an extreme form (sirenomelia), this presents with fusion and hypoplasia of the lower extremities and pelvic structures. Caudal regression occurs more commonly in diabetic pregnancy.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The Poland anomaly, of unilateral syndactyly and pectoral muscle aplasia, is an important form to recognise because it appears to be non-genetic in the great majority of cases, probably vascular in aetiology. Bilateral isolated syndactyly of hands and/or feet has several forms, all autosomal dominant. Important syndromes include the orofaciodigital syndrome type I (X-linked dominant, lethal in the male) and the acrocephalosyndactylies (see Chapter 17). Greig syndrome, cephalo poly syndactyly (autosomal dominant), combines syndactyly with polydactyly and skull abnormalities. The extreme fusion defect of the lower limbs, sirenomelia, is sporadic.
Fetal Malformations
Published in Swati Goyal, Essentials of Abdomino-Pelvic Sonography, 2018
Longitudinal view to demonstrate the integrity of spinal canal (Figure 20.7). Spina bifida: Longitudinal scanning—Enlargement at the level of vertebral defect.Axial—Lateral displacement of laminae.Meningocele—Cystic structure protruding from vertebral defect (Figure 20.8).Sirenomelia (Caudal regression syndrome): Variable degree of agenesis of spine and pelvis. Single/fused lower extremity. A/w single umbilical artery (SUA), renal agenesis (marked oligohydramnios), and imperforate anus.
Sirenomelia and maternal chlamydia trachomatis infection: a case report and review
Published in Fetal and Pediatric Pathology, 2019
Gabriella Fuchs, Ekaterina Dianova, Sunny Patel, Sonia Kamanda, Rita Prasad Verma
Sirenomelia is a lethal congenital anomaly of undetermined etiology. The main anatomical defect is the fusion of lower extremities, with absent or malformed perineum. The pathogenesis of sirenomelia is unclear, and while several mechanisms have been proposed, “defective blastogenesis” and “vascular steal phenomenon” are the most accepted theories. We have described a case of sirenomelia born at 30 week normal pregnancy, except for persistent CT infection in the mother. Even though there was no documented evidence of maternal CT infection during the first trimester when organogenesis occurred, positive cultures during second trimester onwards, and a history of spontaneous miscarriage just before this conception suggested the presence of lingering infection, possibly covering that phase. CT has documented cytopathogenic effects, and it is conceivable that fetal invasion by this intracellular organism, contracted from untreated prolonged maternal genital infection could induce structural anomalies, including sirenomelia. By reporting this case we intend to draw attention to such a possibility. This association, however, is speculative and more cases of sirenomelia with CT positive mothers need to be described and appropriately investigated in order to make definite conclusions about such a relationship.