Zeitschriftenartikel: „Alobar holoprosencephaly“

1

Selden, Nathan. „Alobar Holoprosencephaly“. Pediatric Neurosurgery 33, Nr. 2 (2000): 112. http://dx.doi.org/10.1159/000028986.

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2

Callahan, Jodi, Casey Harmon, John Aleshire, Bill Hickey und Brandy Jones. „Alobar Holoprosencephaly With Cebocephaly“. Journal of Diagnostic Medical Sonography 33, Nr. 1 (26.09.2016): 39–42. http://dx.doi.org/10.1177/8756479316664477.

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Holoprosencephaly (HPE) is a complex brain malformation caused by incomplete fusion of cleavage of the cerebral hemispheres and deep brain structures affecting 6 to 12:10,000 live-born infants. There are three categories of HPE ranging in severity, with alobar holoprosencephaly being the most severe, followed by semilobar holoprosencephaly, and lobar holoprosencephaly being the mildest form. Facial anomalies as well as chromosome anomalies are often associated with HPE. This case study describes a transabdominal sonographic diagnosis of alobar HPE with cebocephaly originally found at 27 weeks 3 days on a patient with no prenatal care.

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3

Bullen, PJ, und SC Robson. „Holoprosencephaly“. Fetal and Maternal Medicine Review 12, Nr. 1 (17.01.2001): 1–21. http://dx.doi.org/10.1017/s0965539501000110.

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Holoprosencephaly (HPE) is an uncommon and clinically severe abnormality of forebrain development, resulting from failure of septation, or cleavage, of the midline forebrain structures. It encompasses a range of brain pathology classified as lobar, semilobar or alobar HPE reflecting increasing degrees of failed septation. The closely related development of the mid-face area is frequently disturbed, with coexisting facial phenotypes ranging from cyclopia to normal.

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4

Raman, Rajesh, und Geetha Mukunda Jagadesh. „Antenatal Diagnosis of Alobar Holoprosencephaly“. Case Reports in Radiology 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/724671.

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A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The importance of presenting this classical case of alobar holoprosencephaly is to sensitize the clinicians and radiologists to the imaging manifestations of holoprosencephaly and to stress the importance of early diagnosis. If diagnosed in utero at an early stage of pregnancy, termination can be performed and maternal psychological trauma of bearing a deformed fetus can be avoided.

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5

Khanna, Dolly, und Karandeep S. Bhatti. „Antenatal diagnosis of alobar holoprosencephaly“. International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, Nr. 5 (28.04.2020): 2184. http://dx.doi.org/10.18203/2320-1770.ijrcog20201832.

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Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female, detected on level II obstetric ultrasound at 17 weeks of gestation. The objective of this case report is to discuss the etiology, pathogenesis, prenatal sonographic findings, management and prognosis of HPE which can aid in its early antenatal diagnosis and can help formulate an adequate plan for the parents and fetus.

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Mirshekari, Leila, Mehrbanu Amirshahi, Akram Sanagoo, Ashraf Salehi, Azam Kerami, Abdolghani Abdollahimohammad, Fatemeh Mirshekari, Fereshteh Naroei, Leila Mansoorifar und Marzeeh Mirshekari. „Alobar holoprosencephaly: A case report“. Journal of Nursing and Midwifery Sciences 2, Nr. 4 (2015): 70. http://dx.doi.org/10.18869/acadpub.jnms.2.4.70.

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7

Akpinar, Elif, Mehmet Sabri Gürbüz, Mehmet Özerk Okutan und Ethem Beşkonakli. „Ventriculoperitoneal Shunting in Alobar Holoprosencephaly“. Journal of Craniofacial Surgery 30, Nr. 6 (September 2019): 1780–81. http://dx.doi.org/10.1097/scs.0000000000005432.

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8

Mizuguchi, M., und Y. Morimatsu. „Histopathological study of alobar holoprosencephaly“. Acta Neuropathologica 78, Nr. 2 (1989): 176–82. http://dx.doi.org/10.1007/bf00688206.

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9

Mizuguchi, M., und Y. Morimatsu. „Histopathological study of alobar holoprosencephaly“. Acta Neuropathologica 78, Nr. 2 (1989): 183–88. http://dx.doi.org/10.1007/bf00688207.

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10

Babaji, Prashant, Shamsher Singh, Seshadri Sekar, Anjani Kumar, Vidit Gupta und Anurag Singh. „Alobar holoprosencephaly with synopthalmia and proboscis“. Journal of Clinical Neonatology 3, Nr. 3 (2014): 176. http://dx.doi.org/10.4103/2249-4847.140415.

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11

Gül, A. „P25An alobar holoprosencephaly; a case report“. Ultrasound in Obstetrics and Gynecology 16 (Oktober 2000): 72. http://dx.doi.org/10.1046/j.1469-0705.2000.00004-1-25.x.

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12

Al-Sibahee, Essam. „Alobar holoprosencephaly with Dandy-Walker malformation“. Neurology and Clinical Neuroscience 7, Nr. 2 (04.01.2019): 98. http://dx.doi.org/10.1111/ncn3.12260.

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13

A., Abubakar, Sanusi Mohammed Ibrahim, Ahidjo A. und Tahir A. „Alobar holoprosencephaly with unfused thalami: A rare variety of holoprosencephaly“. International Journal of Case Reports and Images 5, Nr. 11 (2014): 756. http://dx.doi.org/10.5348/ijcri-2014131-cr-10442.

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14

Waikar, Manjushri, und Anamika Singh. „Antenatal diagnosis of alobar holoprosencephaly: a case report“. International Journal of Contemporary Pediatrics 6, Nr. 5 (23.08.2019): 2198. http://dx.doi.org/10.18203/2349-3291.ijcp20193736.

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Holoprosencephaly (HPE) is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain/ prosencephalon of the embryo into 2 hemispheres1. We present a case of twenty-five year-old primigravida presented to the Outpatient department of Obstetrics for routine checkup and diagnosed with Alobar holoprosencephaly on 2nd level USG. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The purpose of publishing this case is to sensitize the clinicians to the classical features of holoprosencephaly on various imaging modalities and to stress the importance of its detection before 20 weeks of gestation so as to allow for legal medical termination and alleviate maternal psychological trauma of bearing a deformed fetus.

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15

Bronshtein, Moshe, und Zeev Wiener. „Early transvaginal sonographic diagnosis of alobar holoprosencephaly“. Prenatal Diagnosis 11, Nr. 7 (Juli 1991): 459–62. http://dx.doi.org/10.1002/pd.1970110708.

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16

Malchova, E., und K. Demova. „Case Report of a Term Newborn with Prenatally Diagnosed Alobar Holoprosencephaly“. Acta Medica Martiniana 20, Nr. 3 (01.12.2020): 138–42. http://dx.doi.org/10.2478/acm-2020-0016.

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AbstractHoloprosencephaly is a congenital structural abnormality of brain resulting from incomplete cleavage of prosencephalon into two cerebral hemispheres. It is classified as a disorder of organogenesis and brain histogenesis and is typically associated with facial anomalies.Holoprosencephaly is relatively rare – the incidence in live births varies between 1:10,000 – 1:15,000 but is described in 1 out of 250 spontaneously aborted embryos.There are four major varieties of holoprosencephaly according to the degree of separation of the brain hemispheres; this division is crucial for the patient’s prognosis. Three classic subtypes are alobar, semilobar, and lobar holoprosencephaly and there is also a fourth subtype called middle interhemispheric variant.We present a case study of a term newborn with prenatally diagnosed holoprosencephaly with severe facial dys-morphism and associated health complications.

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Venugopalan, Prasanna, Fathima Mithilag und Vidhu V. Nair. „An encounter with alobar holoprosencephaly: a case report“. International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, Nr. 7 (25.06.2020): 3069. http://dx.doi.org/10.18203/2320-1770.ijrcog20202761.

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Alobar holopresencephaly is a rare embryonic condition where there is anomalous fusion of cerebral hemispheres. The key features include neurological impairment and facial dysmorphism like cyclopia, ocular hypertelorism with divided orbits and a proboscis. Obstetric ultrasound and foetal MRI are the diagnostic modalities. Majority of cases are sporadic in origin while a genetic association is also described. A small recurrence risk is noted in cases with sporadic origin. Early diagnosis and pregnancy termination are advisable for the condition since the survival rate is very low.

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18

Meagher, Simon, und Lisa Hui. „Alobar holoprosencephaly detected in a 9-week embryo“. American Journal of Obstetrics and Gynecology 221, Nr. 1 (Juli 2019): 73–74. http://dx.doi.org/10.1016/j.ajog.2018.12.019.

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19

Permadi, Wiryawan, D. Setiawan, M. Alamsyah Aziz, Yanuarman , Anita D. Anwar und F. F. Wirakusumah. „Alobar Holoprosencephaly with Duodenal Atresia: A Case Report“. Open Journal of Obstetrics and Gynecology 09, Nr. 08 (2019): 1189–96. http://dx.doi.org/10.4236/ojog.2019.98115.

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20

Hsieh, Tsung-Ying, Chen-Hsiang Yu, Pao-Lin Kuo und Fong-Ming Chang. „Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma“. Taiwanese Journal of Obstetrics and Gynecology 45, Nr. 2 (Juni 2006): 146–49. http://dx.doi.org/10.1016/s1028-4559(09)60213-8.

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21

Ionescu, Crîngu Antoniu, Dan Calin, Dan Navolan, Alexandra Matei, Mihai Dimitriu, Catalin Herghelegiu und Liana Ples. „Alobar holoprosencephaly associated with a rare chromosomal abnormality“. Medicine 97, Nr. 29 (Juli 2018): e11521. http://dx.doi.org/10.1097/md.0000000000011521.

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22

Mizuguchi, M., S. Maekawa und S. Kamoshita. „Distribution of Leptomeningeal Glioneuronal Heterotopia in Alobar Holoprosencephaly“. Archives of Neurology 51, Nr. 9 (01.09.1994): 951–54. http://dx.doi.org/10.1001/archneur.1994.00540210125022.

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23

Vrachnis, N., N. Antonakopoulos und Z. Iliodromiti. „EP06.16: Recurrent fetal alobar holoprosencephaly: a consultation challenge“. Ultrasound in Obstetrics & Gynecology 54, S1 (30.09.2019): 265. http://dx.doi.org/10.1002/uog.21216.

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24

Barr, Mason, und M. Michael Cohen. „Autosomal recessive alobar holoprosencephaly with essentially normal faces“. American Journal of Medical Genetics 112, Nr. 1 (15.09.2002): 28–30. http://dx.doi.org/10.1002/ajmg.10587.

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25

Cioca, Andreea, und Monica Gisca. „Prenatal diagnosis of alobar holoprosencephaly associated with cyclopia“. Human Pathology: Case Reports 9 (September 2017): 69–70. http://dx.doi.org/10.1016/j.ehpc.2016.08.005.

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26

Petersson, Rajanya S., William A. Carey und Dana M. Thompson. „Airway Management in an Infant with Alobar Holoprosencephaly and Cebocephaly Associated with Maternal Diabetes Mellitus“. Ear, Nose & Throat Journal 92, Nr. 5 (Mai 2013): 215–18. http://dx.doi.org/10.1177/014556131309200516.

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We report a case of alobar holoprosencephaly (HPE) and cebocephaly associated with uncontrolled maternal type 1 (insulin-dependent) diabetes mellitus. Alobar HPE is the most severe form of HPE. Patients with cebocephaly have ocular hypotelorism and a proboscis with a single, blind-ended nostril. Shortly after our patient was born, we were consulted for airway management, as the parents’ goal was to bringtheir child home. A tracheostomy tube was placed, and choanal atresia repair was eventually performed. The infant was never decannulated, however, and she died at the age of 9 months of acute respiratory distress syndrome secondary to an upper respiratory infection. To the best of our knowledge, this case represents the longest reported survival of an infant with alobar HPE and cebocephaly. Decisions regarding the care of these infants should be made in a collaborative, multidisciplinary fashion, with special attention paid to the primary caregivers’ goals of care.

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Elisa, Elisa, A. H. Putranti und E. Mulyono. „Clinical manifestations in semilobar holoprosencephaly“. Paediatrica Indonesiana 51, Nr. 3 (30.06.2011): 182. http://dx.doi.org/10.14238/pi51.3.2011.182-6.

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Holoprosencephaly (HPE) is a brain malformation caused by a primary defect in induction and patterning of the rostral neurotube (basal forebrain) during the first 4 weeks of embryogenesis. T his defect results in incomplete separation of the cerebral hemispheres.Based on the degree of hemispheric nonseparation, HPE traditionally has been classified into three types: alobar, semilobar, and lobar.! In 1963, DeMyer et al. mentioned that defects in brain development may frequently coexist with abnormalities on the midfacial region. T he median facio-cerebral anomalies appear in various associated gradations and combinations.When combined in patterns, these facies always predict a severe, highly characteristic brain anomaly.2

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Rima, Shamim, Md Tarik Aziz, Rumana Amin und M. Afsar Abedin. „Antenatal Sonographic Diagnosis of a Case of Alobar Holoprosencephaly“. Anwer Khan Modern Medical College Journal 9, Nr. 1 (01.03.2018): 68–70. http://dx.doi.org/10.3329/akmmcj.v9i1.35828.

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Holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. In this study, we described a case of HPE in a neonate with gestational age of 35 weeks.Anwer Khan Modern Medical College Journal Vol. 9, No. 1: Jan 2018, P 68-70

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McGahan, J. P., D. A. Nyberg und L. A. Mack. „Sonography of facial features of alobar and semilobar holoprosencephaly.“ American Journal of Roentgenology 154, Nr. 1 (Januar 1990): 143–48. http://dx.doi.org/10.2214/ajr.154.1.2104699.

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30

Vineel, Inampudi, CR Srinivasa Babu, Arjun Prakash und YRavi Kumar. „Antenatally diagnosed alobar holoprosencephaly: A report of two cases“. CHRISMED Journal of Health and Research 4, Nr. 4 (2017): 283. http://dx.doi.org/10.4103/cjhr.cjhr_23_17.

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31

Plawner, L., N. Clegg, S. Kinsman und M. Delgado. „Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly“. Child's Nervous System 16, Nr. 4 (28.04.2000): 195. http://dx.doi.org/10.1007/s003810050494.

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32

Takahashi, Satoru, Akie Miyamoto, Junichi Oki, Tomoyuki Saino und Fumie Inyaku. „Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder“. Pediatric Neurology 13, Nr. 2 (September 1995): 175–77. http://dx.doi.org/10.1016/0887-8994(95)00146-7.

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33

Munteanu, Alexandra, Cringu A. Ionescu und Dan Navolan. „How to understand Holoprosencephaly“. Donald School Journal of Ultrasound in Obstetrics and Gynecology 11, Nr. 4 (2017): 282–87. http://dx.doi.org/10.5005/jp-journals-10009-1534.

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ABSTRACT Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon from the diencephalon. According to the severity of the malformation, HPE is categorized into four subtypes: Alobar HPE, semilobar HPE, lobar HPE, and a middle interhemispheric fusion variant (syntelencephaly). The incidence of HPE is 1 in 10,000 to 15,000 births. The etiology of HPE is very heterogeneous, and the identified causes until now are: Chromosomal (most commonly trisomy 13), monogenic, and teratogenic. The first step of the diagnostics is based on the ultrasound visualization of cerebral ventricular abnormalities, on the axial plane of the fetal brain, and on the facial anomalies. How to cite this article Vladareanu R, Munteanu A, Ionescu CA, Navolan D, Vladareanu S. How to understand Holoprosencephaly. Donald School J Ultrasound Obstet Gynecol 2017;11(4):282-287.

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Tokmak, Aytekin, Hakan Timur, Korkut Dağlar und Özgür Kara. „Iniencephaly and Holoprosencephaly: Report of a Rare Association“. Case Reports in Obstetrics and Gynecology 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/849589.

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The aim of this study is to discuss a rare association of iniencephaly and holoprosencephaly and to state the importance of pregnancy termination in early gestational weeks. An 18-year-old nullipara was admitted to our perinatology service with a diagnosis of neural tube defect. Based on the ultrasonographic findings of alobar holoprosencephaly and iniencephaly during a prenatal screening, termination was recommended at the 13th week of pregnancy. However, she rejected the termination and received no prenatal care until the onset of parturition. At the time of admission, she was in her 28th week of pregnancy. Her medical and family histories were unremarkable. She delivered a stillbirth female weighing 1100 gr complicated with iniencephaly. The infant’s postmortem examination showed iniencephaly associated with holoprosencephaly and cyclops. The family declined an autopsy and genetic counseling. In this case, genetics and environmental causes, including lower socioeconomic status and lack of folic acid supplementation, may be risk factors for the current disorder. In conclusion, prenatal diagnosis is possible and termination in early pregnancy should be proposed to patients with iniencephaly associated with holoprosencephaly. In addition, folic acid supplementation should be recommended to reduce the risk of contracting this disorder.

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Chen, C. P., S. L. Shih, F. F. Liu und S. W. Jan. „Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.“ Journal of Medical Genetics 34, Nr. 3 (01.03.1997): 252–55. http://dx.doi.org/10.1136/jmg.34.3.252.

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36

Turner, C. D., S. Silva und P. Jeanty. „Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation“. Ultrasound in Obstetrics and Gynecology 13, Nr. 5 (Mai 1999): 360–62. http://dx.doi.org/10.1046/j.1469-0705.1999.13050360.x.

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BALCI, S., B. ??NOL, M. D. ER??AL, M. G??NAY, A. BESIM und M. ERYILMAZ. „Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs“. Clinical Dysmorphology 2, Nr. 2 (April 1993): 165???168. http://dx.doi.org/10.1097/00019605-199304000-00013.

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Greene, Michael F., Beryl R. Benacerraf und Fredric D. Frigoletto. „Reliable criteria for the prenatal sonographic diagnosis of alobar holoprosencephaly“. American Journal of Obstetrics and Gynecology 156, Nr. 3 (März 1987): 687–89. http://dx.doi.org/10.1016/0002-9378(87)90078-0.

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39

Kjær, Inger, Jean W. Keeling, Birgit Fischer Hansen und Karin B. Becktor. „Midline Skeletodental Morphology in Holoprosencephaly“. Cleft Palate-Craniofacial Journal 39, Nr. 3 (Mai 2002): 357–63. http://dx.doi.org/10.1597/1545-1569_2002_039_0357_msmih_2.0.co_2.

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Objective: The purpose of the present study was to analyze histologically the midline structures in a human fetus with holoprosencephaly and a single median maxillary central incisor. Methods: A human male fetus, CRL 137 mm, postconceptional age 18 weeks, with a diagnosis of holoprosencephaly, the cebocephalic type (one nostril), and alobar brain development, was investigated. After radiography, the cranial midline structures were examined histologically. Results: The histological examination revealed partial absence of the intermaxillary suture (in the region anterior to the central incisor), absence of the internasal suture, and partial absence of the metopic suture (caudal part). A single midline nasal bone was observed instead of two bilateral nasal bones, and a midline maxillary central incisor was found instead of two bilateral incisors. A short nasal septum, absence of crista galli, and partial absence of cartilaginous tissue anterior to the sella turcica in the region of the presphenoid bone were recorded. Conclusions: The study shows that in the affected fetus, there were malformations of midline structures anterior to the sella turcica comprising suture development and cartilage development.

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Young, Jacob N., W. Jerry Oakes und H. Pall Hatten. „Dorsal third ventricular cyst: an entity distinct from holoprosencephaly“. Journal of Neurosurgery 77, Nr. 4 (Oktober 1992): 556–61. http://dx.doi.org/10.3171/jns.1992.77.4.0556.

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✓ The treatment and subsequent developmental progress of six children with dorsal third ventricular cysts are described. This cystic malformation has a radiological appearance which is superficially similar to that of the dorsal cyst of alobar holoprosencephaly, especially when the third ventricular cyst is large. Indeed, previous reports have identified this abnormality as a form of holoprosencephaly. However, careful study reveals that the dorsal third ventricular cyst is a distinct entity both developmentally and clinically. The six patients in this series were effectively treated with shunts, and their subsequent developmental progress was assessed by means of the Prescreening Developmental Questionnaire-Revised as well as the Bayley Scales of Infant Development. The nomenclature and differences between this entity and the holoprosencephalies are reviewed. The authors conclude that dorsal third ventricular cysts have a developmental and clinical course more similar to that of arachnoid cysts than to that of the holoprosencephalies.

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Ng, Lay Kieng, Sook-Ling Lee, L. K. Tan und H. K. Tan. „1033: Contribution of 3D Ultrasound in the Diagnosis of Alobar Holoprosencephaly“. Ultrasound in Medicine & Biology 35, Nr. 8 (August 2009): S107. http://dx.doi.org/10.1016/j.ultrasmedbio.2009.06.415.

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42

Afra, Pegah, und Bola Adamolekun. „EEG findings in an adult with severe case of alobar holoprosencephaly“. Seizure 20, Nr. 9 (November 2011): 731–34. http://dx.doi.org/10.1016/j.seizure.2011.06.011.

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43

Swatek, Jarosław, Justyna Szumiło und Franciszek Burdan. „Alobar holoprosencephaly with cyclopia – Autopsy-based observations from one medical center“. Reproductive Toxicology 41 (November 2013): 80–85. http://dx.doi.org/10.1016/j.reprotox.2013.06.060.

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44

Albu, Cristina-Crenguţa. „Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus“. Romanian Journal of Morphology and Embryology 61, Nr. 4 (25.06.2021): 1309–16. http://dx.doi.org/10.47162/rjme.61.4.32.

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45

Ionescu, Cringu Antoniu, Simona Vladareanu, Stefania Tudorache, Liana Ples, Catalin Herghelegiu, Adrian Neacsu, Dan Navolan, Ioana Dragan und Daniela Nuti Oprescu. „The wide spectrum of ultrasound diagnosis of holoprosencephaly“. Medical Ultrasonography 21, Nr. 2 (02.05.2019): 163. http://dx.doi.org/10.11152/mu-1614.

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Aim: Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. The aim of this study was to assess the ultrasound diagnostic criteria for HPE.Material and method: A database of 175 fetuses with central nervous system anomalies identified by ultrasound was collected retrospectively from 2006 to 2016 in this multicenter, retrospective, observational study. Among them 18 cases (10.2%) with HPE were identified.Results: The prevalence of HPE was 2.5:10.000 with the sex distributionmale:female of 1:1.6. Six cases were alobar subtype, 3 were semilobar, 7 were lobar and 2 were middle interhemispheric variant. In the second trimester, we consider that the abnormal fusion of the lateral ventricles and the absence of the cavum septum pellucidum are the most important landmarks for HPE. Facial abnormalities varied considerably.Conclusion: This study illustrates the heterogeneity of HPE with different cerebral and facial appearances.

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Khan, Rizwan Ahmad, Manjari Thapa und Shagufta Wahab. „Antenatal Sonographic Diagnosis of A Case of Alobar Holoprosencephaly: A Case Report“. International Journal of Clinical Medicine 03, Nr. 05 (2012): 431–32. http://dx.doi.org/10.4236/ijcm.2012.35080.

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Sarica, Can, Cem Yucetas, Ali Ozen, Necati Ucler, Capan Konca und Selahattin Akar. „Management Strategies for Hydrocephalus in Alobar Holoprosencephaly: A Case Report and Discussion“. Pediatric Neurosurgery 53, Nr. 5 (2018): 337–41. http://dx.doi.org/10.1159/000489856.

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Lai, Tsung-Hsuan, Chiung-Hsin Chang, Chen-Hsiang Yu, Pao-Lin Kuo und Fong-Ming Chang. „Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound“. Prenatal Diagnosis 20, Nr. 5 (Mai 2000): 400–403. http://dx.doi.org/10.1002/(sici)1097-0223(200005)20:5<400::aid-pd839>3.0.co;2-l.

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Van Gool, S., F. de Zegher, L. S. de Vries, M. Vanderschueren-Lodeweyckx, H. Devlieger, P. Casaer und E. Eggermont. „Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report“. European Journal of Pediatrics 149, Nr. 9 (Juni 1990): 621–22. http://dx.doi.org/10.1007/bf02034747.

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Salama, Ghassan S. A., Mahmoud A. F. Kaabneh, Mohamed K. Al-Raqad, Ibrahim M. H. Al-Abdallah, Ayoub Ga Shakkoury und Ruba A. A. Halaseh. „Cyclopia: A Rare Condition with Unusual Presentation - A Case Report“. Clinical Medicine Insights: Pediatrics 9 (Januar 2015): CMPed.S21107. http://dx.doi.org/10.4137/cmped.s21107.

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Introduction Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. Case Presentation A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital – Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia). Conclusion Presentation of cyclopia is not fully exposed and new cyclopian syndromes still can appear. The prenatal diagnosis of cyclopia can be made early by ultrasound, and the awareness of the spectrum of sonographic findings of cyclopia can improve the accuracy of prenatal diagnosis. The legitimization of pregnancy termination for indexed cases in many countries around the world should be revised.

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