{"title":"Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation","authors":"Alnoman Abdullah, A. Ghazi, BrownD. Richard","doi":"10.1515/CRPM-2019-0060","DOIUrl":"https://doi.org/10.1515/CRPM-2019-0060","url":null,"abstract":"","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"114 1","pages":"20190060"},"PeriodicalIF":0.1,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77141737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Kurasaki, J. Hasegawa, C. Homma, A. Miura, H. Kondo, N. Suzuki
Abstract Objectives Spina bifida manifests in various forms, and the clinical imaging findings depend on the level of the vertebral defect. It is difficult to predict the severity of the neurological symptoms and the degree of urgency of early treatment antenatally. Case presentation In the present case report of fetal myelomeningocele (MMC), three-dimensional (3D) ultrasound showed accurate findings of fetal back surficial skin and tissue defect. The neonatologist and surgeons were able to decide upon appropriate treatment strategies on the basis of these findings. Conclusions 3D ultrasound helps provide information to neonatologists and neurosurgeons about the initial treatment and illustrates the physical appearance of the disease for the parents of the unborn child.
{"title":"Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion","authors":"A. Kurasaki, J. Hasegawa, C. Homma, A. Miura, H. Kondo, N. Suzuki","doi":"10.1515/crpm-2018-0065","DOIUrl":"https://doi.org/10.1515/crpm-2018-0065","url":null,"abstract":"Abstract Objectives Spina bifida manifests in various forms, and the clinical imaging findings depend on the level of the vertebral defect. It is difficult to predict the severity of the neurological symptoms and the degree of urgency of early treatment antenatally. Case presentation In the present case report of fetal myelomeningocele (MMC), three-dimensional (3D) ultrasound showed accurate findings of fetal back surficial skin and tissue defect. The neonatologist and surgeons were able to decide upon appropriate treatment strategies on the basis of these findings. Conclusions 3D ultrasound helps provide information to neonatologists and neurosurgeons about the initial treatment and illustrates the physical appearance of the disease for the parents of the unborn child.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"20 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75469768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Pasieczna, Joanna Kuran-Ohde, A. Kajdy, D. Filipecka-Tyczka, Natalia Świątek, J. Szymkiewicz-Dangel
Abstract Objectives To analyze pregnancy management and postnatal follow-up in monochorionic monoamniotic (MCMA) pregnancies complicated by a congenital heart defect (CHD) in one twin and to compare the results with current recommendations concerning time and mode of delivery in MCMA pregnancies. Cases presentation Perinatal medical records of five pairs of monoamniotic twins referred to Fetal Cardiology Department were analyzed. 5 out of 23 MCMA pregnancies (21.7%) were complicated by CHD in one fetus. Cesarean section (CS) was performed between 32 and 35 weeks of gestation (WoG). 9 out of 10 neonates had respiratory failure, including all patients with CHD. Twins without congenital abnormalities spent median 21 days (range 10–40 days) in neonatal units. Patients with CHD were transferred to cardiology departments on average 6th day of life. All were operated on later than term-born neonates, 4 out of 5 required stage surgery and their median stay in the hospital was 75 days (range 48–106 days). Conclusions According to current recommendations, delivery in MCMA pregnancies should be scheduled at 32–34 weeks. In cases complicated by CHD in one twin, such early delivery complicates surgical treatment and may affect the final outcome. Low body weight and respiratory disorders increase the risk of complications in the perioperative period and prolong hospitalization.
{"title":"Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions","authors":"M. Pasieczna, Joanna Kuran-Ohde, A. Kajdy, D. Filipecka-Tyczka, Natalia Świątek, J. Szymkiewicz-Dangel","doi":"10.1515/crpm-2020-0022","DOIUrl":"https://doi.org/10.1515/crpm-2020-0022","url":null,"abstract":"Abstract Objectives To analyze pregnancy management and postnatal follow-up in monochorionic monoamniotic (MCMA) pregnancies complicated by a congenital heart defect (CHD) in one twin and to compare the results with current recommendations concerning time and mode of delivery in MCMA pregnancies. Cases presentation Perinatal medical records of five pairs of monoamniotic twins referred to Fetal Cardiology Department were analyzed. 5 out of 23 MCMA pregnancies (21.7%) were complicated by CHD in one fetus. Cesarean section (CS) was performed between 32 and 35 weeks of gestation (WoG). 9 out of 10 neonates had respiratory failure, including all patients with CHD. Twins without congenital abnormalities spent median 21 days (range 10–40 days) in neonatal units. Patients with CHD were transferred to cardiology departments on average 6th day of life. All were operated on later than term-born neonates, 4 out of 5 required stage surgery and their median stay in the hospital was 75 days (range 48–106 days). Conclusions According to current recommendations, delivery in MCMA pregnancies should be scheduled at 32–34 weeks. In cases complicated by CHD in one twin, such early delivery complicates surgical treatment and may affect the final outcome. Low body weight and respiratory disorders increase the risk of complications in the perioperative period and prolong hospitalization.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"31 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84420568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Gaunt, I. Ahmed, R. Geethanath, M. Abu-Harb, C. Onwuneme
Abstract Objectives The incidence of vertically transmitted severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could be higher than published. We feel that cases of SARS-CoV-2 vertical transmission are under-reported. Case presentation We report a case of SARS-CoV-2 in premature monochorionic monoamniotic twins born by caesarean section to an asymptomatic SARS-CoV-2 positive mother. Conclusions This case supports the potential for intrauterine transmission of SARS-CoV-2 as previously reported. The incidence of SARS-CoV-2 vertical transmission from reported cases is low; however this may be due to the difficulty disproving horizontal transmission or under-reporting of cases.
{"title":"Transmission of SARS-CoV-2 to premature twins from an asymptomatic mother","authors":"P. Gaunt, I. Ahmed, R. Geethanath, M. Abu-Harb, C. Onwuneme","doi":"10.1515/crpm-2020-0064","DOIUrl":"https://doi.org/10.1515/crpm-2020-0064","url":null,"abstract":"Abstract Objectives The incidence of vertically transmitted severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) could be higher than published. We feel that cases of SARS-CoV-2 vertical transmission are under-reported. Case presentation We report a case of SARS-CoV-2 in premature monochorionic monoamniotic twins born by caesarean section to an asymptomatic SARS-CoV-2 positive mother. Conclusions This case supports the potential for intrauterine transmission of SARS-CoV-2 as previously reported. The incidence of SARS-CoV-2 vertical transmission from reported cases is low; however this may be due to the difficulty disproving horizontal transmission or under-reporting of cases.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"43 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73707700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Stupak, M. Bobiński, Andrzej Miturski, Barbara Kalbarczyk, A. Kwaśniewska, J. Kotarski
Abstract Objectives Uterine fibroids are the most common benign tumors in women of procreative age. The effects of their occurrence affect the course of pregnancy by increasing the frequency of abortions, premature delivery or premature abruption of the placenta. Medical treatment includes clinical observation, pharmacological pain control, myomectomy during pregnancy or perinatal hysterectomy. Case presentation We present a survey of literature and the case of a pregnant woman with an enormous uterine fibroid 23×13×16 cm on the basis of which a diagnostic-therapeutic scheme for tumors of the reproductive organs during pregnancy has been developed. Conclusions The study presents improved recommendations for management the pregnancies in presence of the uterine myomas based on clinical practice.
{"title":"Management in cases of large uterine myomas in pregnancy","authors":"A. Stupak, M. Bobiński, Andrzej Miturski, Barbara Kalbarczyk, A. Kwaśniewska, J. Kotarski","doi":"10.1515/crpm-2019-0059","DOIUrl":"https://doi.org/10.1515/crpm-2019-0059","url":null,"abstract":"Abstract Objectives Uterine fibroids are the most common benign tumors in women of procreative age. The effects of their occurrence affect the course of pregnancy by increasing the frequency of abortions, premature delivery or premature abruption of the placenta. Medical treatment includes clinical observation, pharmacological pain control, myomectomy during pregnancy or perinatal hysterectomy. Case presentation We present a survey of literature and the case of a pregnant woman with an enormous uterine fibroid 23×13×16 cm on the basis of which a diagnostic-therapeutic scheme for tumors of the reproductive organs during pregnancy has been developed. Conclusions The study presents improved recommendations for management the pregnancies in presence of the uterine myomas based on clinical practice.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"8 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80396221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Objectives Though it is rare and challenging to study, neonatal hypertension (HTN) has been explored and studied by many pediatricians. There were some causes reported in preterm infants such as renal diseases and bronchopulmonary dysplasia. Case presentation We report a premature female infant who was born at a gestational age of 25 + 6 weeks and developed systemic hypertension on the day of a gestation age of 30 + 3 weeks. This case had a rare cause which involved high-normal serum aldosterone level that could possibly indicate hyperaldosteronism and over-stimulation of renin–angiotensin–aldosterone system (RAAS). We believe elevation of serum aldosterone was caused by a left-to-right shunt flow through a patent ductus arteriosus. Hypertension due to a patent ductus arteriosus sounds like a paradox. However, in our case, the shunt flow was shown to be a possible cause of the systemic hypertension. Surgical closure of the shunt was done and the hypertension resolved. We evaluated serum aldosterone levels and plasma renin activities both, before and after the closure to look for a possible cause. Conclusions Neonatologist often treats systemic hypertensive infants considering possible causes in order to prevent hypertensive crisis. Our case shows that possibility of hyperaldosteronism and (RAAS) over-stimulation should be considered as causes in case of severe systemic hypertension in preterm infants with large left-to-right shunt flows.
{"title":"Neonatal hypertension caused by left-to-right shunt flow through a patent ductus arteriosus in a premature infant","authors":"Sung-Ha Kim, Eujin Park, S. Hwang, T. Sung","doi":"10.1515/crpm-2020-0007","DOIUrl":"https://doi.org/10.1515/crpm-2020-0007","url":null,"abstract":"Abstract Objectives Though it is rare and challenging to study, neonatal hypertension (HTN) has been explored and studied by many pediatricians. There were some causes reported in preterm infants such as renal diseases and bronchopulmonary dysplasia. Case presentation We report a premature female infant who was born at a gestational age of 25 + 6 weeks and developed systemic hypertension on the day of a gestation age of 30 + 3 weeks. This case had a rare cause which involved high-normal serum aldosterone level that could possibly indicate hyperaldosteronism and over-stimulation of renin–angiotensin–aldosterone system (RAAS). We believe elevation of serum aldosterone was caused by a left-to-right shunt flow through a patent ductus arteriosus. Hypertension due to a patent ductus arteriosus sounds like a paradox. However, in our case, the shunt flow was shown to be a possible cause of the systemic hypertension. Surgical closure of the shunt was done and the hypertension resolved. We evaluated serum aldosterone levels and plasma renin activities both, before and after the closure to look for a possible cause. Conclusions Neonatologist often treats systemic hypertensive infants considering possible causes in order to prevent hypertensive crisis. Our case shows that possibility of hyperaldosteronism and (RAAS) over-stimulation should be considered as causes in case of severe systemic hypertension in preterm infants with large left-to-right shunt flows.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"17 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81804568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Natasha Mense-Dietrich, V. Mugarab-Samedi, K. Kalaniti
Abstract Objectives Congenital hemangiomas have been well documented, but there remains relatively little information regarding the workup of large or atypical vascular lesions in neonates beyond history and physical exam. Case presentation We report a case of a large congenital hemangioma overlying the anterior chest wall of a term male infant. Imaging by ultrasound and computed tomography (CT) scan confirmed the diagnosis of congenital hemangioma, either non-involuting or rapidly-involuting type. Further imaging supported a plan to manage this case conservatively. Conclusions We present a case of a giant congenital hemangioma overlying most of the chest wall of a term infant and describe the findings on physical exam and imaging, as well as a work-up of similar lesions.
{"title":"Giant congenital vascular malformation: diagnostic approach and clinical course","authors":"Natasha Mense-Dietrich, V. Mugarab-Samedi, K. Kalaniti","doi":"10.1515/crpm-2020-0014","DOIUrl":"https://doi.org/10.1515/crpm-2020-0014","url":null,"abstract":"Abstract Objectives Congenital hemangiomas have been well documented, but there remains relatively little information regarding the workup of large or atypical vascular lesions in neonates beyond history and physical exam. Case presentation We report a case of a large congenital hemangioma overlying the anterior chest wall of a term male infant. Imaging by ultrasound and computed tomography (CT) scan confirmed the diagnosis of congenital hemangioma, either non-involuting or rapidly-involuting type. Further imaging supported a plan to manage this case conservatively. Conclusions We present a case of a giant congenital hemangioma overlying most of the chest wall of a term infant and describe the findings on physical exam and imaging, as well as a work-up of similar lesions.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"20 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75489359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Guri, E. Scheier, U. Balla, Mikhael Chigrinsky, Eli Shapiro
Abstract Objectives Group-B streptococcus (GBS) continues to be a significant cause of late-onset neonatal illness. Rarely does it present as cellulitis-adenitis syndrome, and rarely does the infection recur in the same infant after complete recovery. Case presentation Here we report a case of recurrent late-onset cellulitis-adenitis GBS syndrome in a term 12-day-old neonate. The infant presented with fever and cellulitis of the right neck. Full sepsis workup was normal and the infant recovered completely with antibiotics. Three days after the completion of antibiotics the patient returned to the emergency department due to fever, toxic appearance and rapidly spreading cellulitis, and adenitis on the left side of the neck. Blood culture revealed GBS. The patient was re-admitted to the hospital and successfully treated with a prolonged course of antibiotics. Conclusions This case highlights the importance of treating neonatal cellulitis with fever as bacteremia, and reminds us of the rare possibility of recurrent invasive GBS disease. Moreover, this case illustrates that GBS cellulitis-adenitis syndrome is possibly underdiagnosed in mild cases. Physicians should be aware that neonatal cellulitis can precede the appearance of severe sepsis. Neonates with fever and cellulitis without a clear external port of entry should undergo a complete sepsis workup and receive antibiotic treatment appropriate for bacteremia, even if the blood cultures are negative. Although the recurrence of GBS sepsis is rare, physicians should be aware of this possibility in order to treat the infection early.
{"title":"Recurrent neonatal group B streptococcus cellulitis and adenitis syndrome with late-onset sepsis","authors":"A. Guri, E. Scheier, U. Balla, Mikhael Chigrinsky, Eli Shapiro","doi":"10.1515/crpm-2020-0019","DOIUrl":"https://doi.org/10.1515/crpm-2020-0019","url":null,"abstract":"Abstract Objectives Group-B streptococcus (GBS) continues to be a significant cause of late-onset neonatal illness. Rarely does it present as cellulitis-adenitis syndrome, and rarely does the infection recur in the same infant after complete recovery. Case presentation Here we report a case of recurrent late-onset cellulitis-adenitis GBS syndrome in a term 12-day-old neonate. The infant presented with fever and cellulitis of the right neck. Full sepsis workup was normal and the infant recovered completely with antibiotics. Three days after the completion of antibiotics the patient returned to the emergency department due to fever, toxic appearance and rapidly spreading cellulitis, and adenitis on the left side of the neck. Blood culture revealed GBS. The patient was re-admitted to the hospital and successfully treated with a prolonged course of antibiotics. Conclusions This case highlights the importance of treating neonatal cellulitis with fever as bacteremia, and reminds us of the rare possibility of recurrent invasive GBS disease. Moreover, this case illustrates that GBS cellulitis-adenitis syndrome is possibly underdiagnosed in mild cases. Physicians should be aware that neonatal cellulitis can precede the appearance of severe sepsis. Neonates with fever and cellulitis without a clear external port of entry should undergo a complete sepsis workup and receive antibiotic treatment appropriate for bacteremia, even if the blood cultures are negative. Although the recurrence of GBS sepsis is rare, physicians should be aware of this possibility in order to treat the infection early.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"83 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88108583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
María Montenegro del Moral, Gonzalez Isabel, A. I. Padilla Pérez, Margarita Álvarez-de-la-Rosa Rodríguez
Abstract Objectives We aim to report a case of a septated urinary bladder with kidney dysplasia in a fetus presenting with 2q13 microdeletion. Several genes have been related to urogenital malformations. Reports of fetal multi-septated urinary bladder are extremely rare. Deletion 2q13 is responsible for a wide range of phenotypic manifestations but not commonly urogenital diseases. Case presentation We present a case of a primigravida with no contributing history referred to our center for suspected fetal kidney dysplasia. Ultrasound scan at 25 weeks gestation revealed septated urinary bladder and severe pelvic renal dilatation. CGH array showed de novo deletion 2q13. Upon counseling the parents opted for termination. Autopsy confirmed the urinary tract findings and normal external female genitalia. Conclusions To the best of our knowledge this is the first report of a 2q13 microdeletion and septated bladder. We suggest offering genetic counseling at the finding of a septated bladder and determine prognosis upon renal parenchymal destruction.
{"title":"Septated fetal bladder in a case of 2q13 deletion","authors":"María Montenegro del Moral, Gonzalez Isabel, A. I. Padilla Pérez, Margarita Álvarez-de-la-Rosa Rodríguez","doi":"10.1515/crpm-2020-0026","DOIUrl":"https://doi.org/10.1515/crpm-2020-0026","url":null,"abstract":"Abstract Objectives We aim to report a case of a septated urinary bladder with kidney dysplasia in a fetus presenting with 2q13 microdeletion. Several genes have been related to urogenital malformations. Reports of fetal multi-septated urinary bladder are extremely rare. Deletion 2q13 is responsible for a wide range of phenotypic manifestations but not commonly urogenital diseases. Case presentation We present a case of a primigravida with no contributing history referred to our center for suspected fetal kidney dysplasia. Ultrasound scan at 25 weeks gestation revealed septated urinary bladder and severe pelvic renal dilatation. CGH array showed de novo deletion 2q13. Upon counseling the parents opted for termination. Autopsy confirmed the urinary tract findings and normal external female genitalia. Conclusions To the best of our knowledge this is the first report of a 2q13 microdeletion and septated bladder. We suggest offering genetic counseling at the finding of a septated bladder and determine prognosis upon renal parenchymal destruction.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88235918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lievelijn Vanhees, E. Denayer, A. Thaens, S. Fransis, M. Van Hoestenberghe
Abstract Objectives Agnathia-otocephaly complex (AOC) is an extremely rare, lethal disorder causing obstruction of the upper airway at birth due to absence of the mandible and hypoplasia of the oral cavity. Implications for future pregnancies need to be elucidated by parental counselling, as recurrence of AOC or associated comorbidities are possible. Very little is known on this subject, because of the rarity of the disorder and scarce data on genetic causes of this complex. The objectives of this study were to determine the recurrence risk and mode of inheritance for AOC based on current literature. Contents Recurrence of AOC or associated comorbidities within the family of an index case was reported in eight articles, describing 7 and 27 relatives, respectively. There were eight AOC cases in which the genetic cause was known. Mutations in 2 genes, orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1), have been described. Due to its mainly sporadic appearance, recurrence risk is low. Counselling on recurrence risk is difficult, because of a broad heterogeneity with complex inheritance patterns and variability in phenotypic expression. Outlook Chromosomal analysis and exome sequencing in children with AOC will help unravel current aetiological uncertainties and could help in further reproductive decisions. We emphasize the need for timely diagnosis through ultrasound, providing parents with the opportunity to receive multidisciplinary counselling, giving them the chance to contemplate their management decisions.
{"title":"Agnathia-otocephaly complex: a case report and a literature review on recurrence risk","authors":"Lievelijn Vanhees, E. Denayer, A. Thaens, S. Fransis, M. Van Hoestenberghe","doi":"10.1515/crpm-2020-0041","DOIUrl":"https://doi.org/10.1515/crpm-2020-0041","url":null,"abstract":"Abstract Objectives Agnathia-otocephaly complex (AOC) is an extremely rare, lethal disorder causing obstruction of the upper airway at birth due to absence of the mandible and hypoplasia of the oral cavity. Implications for future pregnancies need to be elucidated by parental counselling, as recurrence of AOC or associated comorbidities are possible. Very little is known on this subject, because of the rarity of the disorder and scarce data on genetic causes of this complex. The objectives of this study were to determine the recurrence risk and mode of inheritance for AOC based on current literature. Contents Recurrence of AOC or associated comorbidities within the family of an index case was reported in eight articles, describing 7 and 27 relatives, respectively. There were eight AOC cases in which the genetic cause was known. Mutations in 2 genes, orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1), have been described. Due to its mainly sporadic appearance, recurrence risk is low. Counselling on recurrence risk is difficult, because of a broad heterogeneity with complex inheritance patterns and variability in phenotypic expression. Outlook Chromosomal analysis and exome sequencing in children with AOC will help unravel current aetiological uncertainties and could help in further reproductive decisions. We emphasize the need for timely diagnosis through ultrasound, providing parents with the opportunity to receive multidisciplinary counselling, giving them the chance to contemplate their management decisions.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"358 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76375847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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