Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart (original) (raw)
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Craniorachischisis totalis and sirenomelia
American Journal of Medical Genetics, 1992
We report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the "axial mesodermal dysplasia spectrum" and may be related to the midline developmental field concept. Q 1992 Wiley-Liss, Inc.
International Journal of Contemporary Pediatrics
Sirenomelia is a rare congenital malformation, characterised by abnormal development of caudal part of body with variable degree of fusion of lower limbs. VACTERL is an acronym used for a group of sporadic non-random birth defects involving multiple organ systems, namely vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) defects. Combination of both the anomalies is very rarely reported in literature. Survival is extremely rare and early prenatal diagnosis may allow for termination of pregnancy. Here we present a case of sirenomelia phenotype, with a complete spectrum of autopsy findings, suggestive of VACTERL association.
Sirenomelia with associated systemic anomalies – an autopsy report in a full term neonate
Polish Journal of Pathology, 2022
The mermaid syndrome, also known as sirenomelia, is considered an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. Affected babies are born with partial or total leg fusion. Sirenomelia is thought to affect one in every 60,000 to 100,000 infants. We report a case of sirenomelia occurring in a 28-year-old multiparous woman, a heavy smoker with gestational diabetes. In the other 5 pregnancies, however, she gave birth to normal babies. The post mortem examination completed the diagnosis, revealing also multiple malformations of several systems: respiratory, gastro-intestinal, genito-urinary and cardiovascular. In our full term neonate case with grade VI sirenomelia, the presence of a single umbilical artery plus the abdominal aorta with an aberrant trajectory that ends in the umbilical cord differentiates this condition from caudal regression syndrome and also explains the under-development of pelvic organs (secondary to vascular steal phenomena).
Pathology - Research and Practice, 2014
Sirenomelia, a developmental defect involving the caudal region of the body, is associated with several internal visceral anomalies. We report a detailed spectrum of anomalies in an autopsy study of four fetuses with sirenomelia (gestational ages-20, 21, 22.4, and 22.5 weeks). Three of the fetuses had single umbilical artery, with genitourinary and gastrointestinal anomalies. Central nervous system anomalies were evident in two of the fetuses, with alobar holoprosencephaly in one and lumbar meningomyelocele in another. The most common gastrointestinal anomaly was blind ended gut (imperforate anus), while esophageal atresia and omphalocele were noted in one case each. Renal hypoplasia was seen in two fetuses, renal agenesis in one and cystic renal dysplasia was noted in one case. Literature regarding pathogenesis of this condition is briefly discussed.
Human Reproduction Update, 1999
We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, X-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. Classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.
Sirenomelia: Case Reports and Current Concepts of Pathogenesis
Pediatric and Developmental Pathology, 2012
We present 2 cases of sirenomelia and highlight the recent theories about its pathogenesis. Both cases had a large aberrant abdominal umbilical artery (AAUA) arising from the aorta, suggesting vascular steal as the pathophysiology. However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory. This proposes that an insult at the early blastogenic stage interferes with the formation of the notochord, resulting in abnormal development of caudal structures, an AAUA, and occasional neural tube defects. We have also analyzed the implications of the similarities between sirenomelia/CD and the VATER association; the increased risk of CD but not sirenomelia in infants of diabetic mothers; the fact that sirenomelia, holoprosencephaly, and the VATER association are all more common in monozygotic twins; the experime...
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis
Case Reports in Obstetrics and Gynecology
Sirenomelia is a rare congenital malformation characterized by varying degrees of fusion of the lower extremities. It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare. To our knowledge, the prenatal sonographic images of this association have not been previously published. Here, we present prenatal sonographic images of this association, detected during the 17th week of gestation through combined two-dimensional, four-dimensional, and color Doppler ultrasound. Two-dimensional ultrasound images showed anencephaly, spina bifida, and possible fusion of the lower limbs. Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis. The patient opted to undergo medical termination of pregnancy and delivered a fetus with fused lower limbs, anencephaly, and rachischisis totalis confirming the ...
Sirenomelia Sequence and Malposition of the Penis
Turkish Journal of Pediatric Disease, 2013
INtRoductIoN Sirenomelia (mermaid baby) sequence is a very rare developmental defect of the posterior axis caudal blastima with a reported incidence of 1/100,000 live births (1). The condition is usually fatal (2). It is characterized by the fusion of both lower limbs, absent genitalia and anal orifice and renal agenesis (3). Etiology is unknown with male gender predominance. The prenatal diagnosis of sirenomelia by ultrasonography and threedimensional helical computed tomography (3D-CT) is possible (4-6). Herein we report a newborn with sirenomelia sequence, single umbilical artery and malpositioned penis in the posterior sacral area. cAse RepoRt A 36-year-old mother (gravida 4, para 3) delivered a baby at the gestational age of 29 weeks. The body weight of the baby was 1270 gr. The father was 30 years old. The parents were not consanguineous. On-physical examination, the case had scaphocephaly, high arch cleft palate, low-set ears, fusion of both lower limbs, absent genitalia, absent anal orifice, absent ureteral orifice and single umbilical artery (Figure 1A,b.). Furthermore, the patient had malposition of the penis in the posterior sacral area (Figure 2). X-ray of the case revealed two broad femurs, two broad tibias and two broad fibulas (Figure 3). Ultrasound of the cranium and abdomen showed minimal dilated lateral ventricles, and bilateral ectopic multicystic dysplastic kidneys and absence of the bladder, respectively. The echocardiogram revealed small secundum type of atrial septal defect. The case developed severe respiratory distress after birth, and was transferred to the neonatal intensive care unit and died within 11 hours. Karyotyping of lymphocytes obtained from peripheral blood with GTG banding was normal (46,XY). Autopsy was not accepted by the family.