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Paediatric radiology
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Ashok Raghavan, Kshitij Mankad, Jeremy B Jones, Neetu Kumar
Amniotic band syndrome results from rupture of the amnion with formation of multiple bands that can cause abdominal wall defects and amputation. Limb-body wall complex is thought to represent a severe form of amniotic band syndrome and results in a large left-sided lateral defect in the abdominal wall.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other syndromes with a similar malformation pattern: Aase syndrome – developmental delay, triphalangeal thumbs, radial hypoplasia, hypoplastic anaemia, hypertelorism, retinopathy, cleft palate, short, webbed neck, parietal foramina and scoliosis. Blackfan Diamond syndrome: may be the same as Aase syndrome. Acrofacial dysostosis type Rodriguez: preaxial and postaxial limb deficiencies, shoulder and pelvic girdle hypoplasia, cardiac and central nervous system malformations, early lethality. Amniotic bands/disruption sequence: congenital ring constrictions or amputation of digits and limbs, talipes, multiple craniofacial, visceral and body wall defects, which include facial clefts, hydrocephalus, exencephaly, acrania, encephalocoele. Limb-bodywall complex: comprises a variable combination of lateral body wall defects, limb reduction defects, craniofacial defects, abnormal genitalia, anal atresia and renal defects. Constrictive amniotic bands, adhesions and umbilical cord abnormalities are almost always present. Pathogenesis should include early amnion rupture, vascular disruption, and early embryonic maldevelopment. Cornelia de Lange syndrome (p. 454); DK phocomelia (p. 519); trisomy18 (p. 586). Chromosome 13q deletion: radial ray anomalies with midline CNS and cardiac abnormalities. Dysmorphic features include trigonocephaly, micrognathia, broad nasal bridge, coloboma. Fetal valproate syndrome: a distinctive dysmorphic syndrome with brachycephaly, a high forehead, shallow orbits, prominent eyes, thin eyebrows and an unusual fold of skin below the lower eyelid. The mouth is small, the upper lip long and thin and the lower lip prominent. Limb abnormalities can include preaxial or postaxial polydactyly and radial defects. Fryns syndrome-acral defects: polyhydramnios with normal fetal growth; coarse face, a broad flat nasal bridge; a large nose anteriorly; short upper lip; small jaw; cleft lip and palate and poorly shaped auricles with attached ear lobes. The distal phalanges are hypoplastic and the nails rudimentary and dysplastic. Internally, diaphragmatic defects and secondary lung hypoplasia may be present. Hemifacial microsomia (p. 424); MURCS association: uterine aplasia/hypoplasia, renal agenesis/ectopia, abnormal cervical or upper thoracic vertebrae, abnormal ribs, Sprengel shoulder, upper limb abnormalities and deafness. Poland syndrome: there is usually unilateral shortening, predominantly of middle phalanges of the digits with cutaneous syndactyly and sometimes distal symphalangism. The thumb is least severely affected. There is ipsilateral absence of one or more portions of pectoralis major (usually the sternal head). Ipsilateral rib defects and absence of the breast or nipple may also occur. Roberts syndrome (p. 467); XK-aprosencephaly: absence of telencephalic or diencephalic structures, radial defects, congenital heart defect and occasionally anal atresia. Facial abnormalities range from hypotelorism to complete absence of all ocular and nasal structures.
Effect of umbilical cord length on early fetal biomechanics
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2021
Juan Felipe Sánchez Gutiérrez, Mercedes Olaya-C, Jorge Andrés Franco, Johana Guevara, Diego Alexander Garzón-Alvarado, María Lucía Gutiérrez Gómez
For our computer model it was evident the shortest cords displayed the highest tension probably explaining failure of the body wall to close. In relation to Limb-Body Wall Complex, UC cord could force to the fetus pull the abdominal wall in order to move within the amniotic sac and consequently make possible the body wall defect (Gajzer et al. 2015). As observed from the umbilical cord tension behavior over time results (Figure 7), for shorter lengths a cyclic tension behavior was observed specific for each UC length. In the clinic the especially short cords (less than 13 cm at term), have high association with fetal abnormalities (Linde et al. 2018), particularly with defects of the abdominal wall, like limb body wall complex (Frías et al. 2007). Therefore, our data provide clinicians with new insights into possible causes of pathological outcomes.
Severe Craniofacial Involvement due to Amniotic Band Sequence
Published in Fetal and Pediatric Pathology, 2018
Luis Eduardo Becerra-Solano, Gema Castañeda-Cisneros, Jorge Roman Corona-Rivera, Manuel Díaz-Rodríguez, Luis Eduardo Figuera, Eunice López-Muñoz, José Antonio Nastasi-Catanese, José Jesús Toscano-Flores, María de Lourdes Ramírez-Dueñas, José Elias García-Ortíz
There are other alternative theories that try to explain what happens in DABS, like those involving amniotic rupture and placental adhesion. Most of them have not been confirmed because its pathophysiology is difficult to explain. To date, there is no consensus on criterion to establish amniotic band sequence as diagnosis, perhaps due to the variable clinical manifestations; sometimes, we can observe minor manifestations such as constrictive scarring in the limbs, without craniofacial disruption (facial cleft, exencephaly or encephalocele; with or without limb involvement). Some patients could represent limb body wall complex (LBWC), which is distinguished based on clinical features involving mainly midline structures. In LBWC, defects in vertebrae, genitalia or anus are commonly observed while in DABS such clinical manifestations are uncommon. The craniofacial defects correspond to spectrum of DABS more than LBWC (Figure 8). The anatomical distribution of WR similar to these craniofacial defects supports abnormalities in the ectodermal placodes. We hypothesized that all the previous conditions must be included as a spectrum because the pathophysiological mechanisms are similar (maternal, environmental and probability intrinsic factors), and no genes are directly associated with the conditions, and risk factors are common and frequent; the main difference is the age in development when the injury happens, provoking a notorious variability in clinical features. Moreover, Yang suggested that the amnion may be damaged without evidence of fetal injury (24).
A rare pseudo tumour in the extraembryonic coelom in first trimester of pregnancy: ultrasound and pathology
Published in Journal of Obstetrics and Gynaecology, 2019
Seiji Sumigama, Atsushi Enomoto, Satoshi Matsukawa, Takafumi Ushida, Kenji Imai, Tomoko Nakano, Tomomi Kotani, Fumitaka Kikkawa
There is only one report as to an extraembryonic coelom cystic mass detected on ultrasonography; which ended with a normal full-term delivery (Becker and Nelson 1987). In this case, the foetus had omphalocele and a right limb contracture deformity. Omphalocele at 12 weeks was not physiological but pathological. These abnormalities were characterised in the limb body wall complex (LBWC). The contracture of the membrane in this case was similar to that of the hernia sac of the LBWC, which has an amniotic epithelium on one side and no epithelium on the other (Russo et al. 1993). By these reasons, we also consider that the residual primary yolk sac is possibly related to the pathology of LBWC.