No … Hahn and Barnes (16) reported that 20%–33% of imaging studies failed to meet diagnostic criteria for HPE; these cases ultimately were diagnosed as SOD, schizencephaly, and agenesis of the corpus callosum with or without an interhemispheric cyst. Note the abnormal, flattened profile (arrowhead). Another author notes that prenatal US can depict the facial and central nervous system abnormalities of severe HPE as early as the first trimester but is much less sensitive for entities toward the less severe end of the spectrum (22). rapid acquisition with relaxation enhancement, 24 July 2020 | RadioGraphics, Vol. HPE is considered the most common malformation of the brain and face in humans (1). 2016 Mar;37(3):536-43. doi: 10.3174/ajnr.A4572. The classic categorization of HPE was proposed by DeMyer and colleagues (7) in 1963, ranging from severe (alobar), through an intermediate stage (semilobar), to least severe (lobar) at the other end of the spectrum. Alobar HPE is an abnormality that may be diagnosed with the aid of US in the developing embryo. This technique may be helpful for early diagnosis in high-risk patients (55). Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Some authors consider SOD to be toward the less-affected end of the spectrum (ie, less severe than lobar HPE) (9,17,19), whereas others include it in the category of abnormal midline development (which may be more appropriate embryologically). After completing this journal-based SA-CME activity, participants will be able to: ■ Identify the various forms of brain malformation that constitute the spectrum of holoprosencephaly. (b) Axial fetal MR image shows apparent complete division of the cerebral hemispheres (arrowheads). e thalami and the basal ganglia are separated. Ionescu CA, Vladareanu S, Tudorache S, Ples L, Herghelegiu C, Neacsu A, Navolan D, Dragan I, Oprescu DN. (b) Sagittal T2-weighted half-Fourier RARE MR image shows a flattened midface (arrow) and the “ball” configuration of the remaining cortex (arrowheads) surrounding the monoventricle (*). Nonchromosomal, nonsyndromic HPE is considered autosomal dominant, with incomplete penetrance and markedly variable expressivity (21). Figure 15b Semilobar HPE. (a) Full spectrum of HPE. Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. Causes of Holoprosencephaly. 6, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. No other abnormality was seen. 1063, Journal of Pediatric Endocrinology and Metabolism, Vol. In 2010, Marcorelles and Laquerriere (4) stated that HPE “represents a continuum of forebrain malformations with no clear-cut distinction among the different subcategories” (Fig 2). The current common categorization of HPE adds another entity to the classic three: middle interhemispheric variant (MIH) (16). 1. The holoprosencephalies (HPEs) are a group of disorders that are characterized by a failure of differentiation and midline cleavage of the prosencephalon, which usually occurs between days 18 and 28 of gestation. A dorsal cyst is almost always present in alobar HPE, and much less frequently in semilobar HPE and lobar HPE (92%, 28%, and 9%, respectively) (16). 4, 27 April 2017 | American Journal of Medical Genetics Part A, Vol. Reportedly, cases of alobar holoprosencephaly have been detected as early as 9-14 weeks' gestation (and often detected at 18-20 weeks on routine anatomic scans), semilobar holoprosencephaly has been detected by 13-20 weeks' gestation, and lobar holoprosencephaly has been detected by 21 weeks' gestation with the use of transvaginal ultrasonography. Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. Radiology Cases and Radiology Case Reports. Poor gastric emptying, gastroesophageal reflux, and constipation are common. Conventional transabdominal … In semilobar holoprosencephaly (Figure B) facial anomalies are variable, rudimentary occipital horns of lateral ventricles are present and falx is partially present. Atelencephaly (AT) is a subset of aprosencephaly: In this instance, a rudimentary diencephalon is present, while the telencephalon is absent. As expected in a continuum of malformation, the precise distinction between semilobar and lobar HPE may be problematic; however, if the third ventricle is formed, some frontal horn formation is present, and the splenium and posterior body of the corpus callosum are formed, the entity may be classified as lobar (9). In cyclopia, the proboscis is superior to a single orbit instead of between the orbits, as in ethmocephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae. Axial T2-weighted half-Fourier RARE MR image shows separate occipital lobes with abnormal facial features, including hypotelorism (black arrows) and a tubular nose (white arrow), which was shown to have a single nostril on images obtained in other planes. Schizencephaly is a rare cortical malformation that manifests as a grey matter-lined cleft extending from the ependyma to the pia matter The cleft extends across the entire cerebral hemisphere, from the ventricular surface (ependyma) to the periphery (pial surface) of the brain 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. A hallmark of all forms of HPE is absence of the cavum septum pellucidum, and attention to this structure is vital to ensure detection of the milder forms. Facial malformations are usually mild or absent in semilobar HPE (16). HHS (a) Coronal fetal MR image shows a monoventricle (*), fused thalami (arrows), and minimal overlying brain tissue (arrowheads). (b) Coronal T2-weighted half-Fourier RARE MR image shows the continuous anterior brain parenchyma (arrow), monoventricle (*), and partially fused thalami (T). Normal cerebella (arrowheads) and brainstem structures (white arrow) are present. Diabetes insipidus has not been seen in children with MIH (18). Other conditions sometimes included in the spectrum of HPE include septo-optic dysplasia (SOD); “minimal” HPE, which is associated with subtle craniofacial malformations and mild developmental delay; and microform HPE, which by definition excludes brain involvement. HP is usually categorized as alobar, semilobar or lobar depending on the degree of forebrain cleavage. Labels: Semilobar holoprosencephaly MRI. In ethmocephaly, the proboscis arises between the hypoteloric orbits (vs superior to the single orbit as is seen in cyclopia). Figure 18c Lobar HPE. Although HPE is a disorder of prosencephalic (forebrain) cleavage, midbrain, cerebellar, and brainstem anomalies such as rhombencephalosynapsis have been described as well (4,16,23,24). This site needs JavaScript to work properly. Inability to demonstrate this sign within a normal cranial vault is highly suggestive of HPE (53). Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center. With alobar HPE, there is a monoventricle and no inter-hemispheric fissure.  |  (b) Postnatal coronal US image shows fusion of the anterior frontal lobes (*) with interdigitation of sulci across the midline (arrows). Characteristic imaging findings include: Complete … Radiology Cases and Radiology Case Reports Dr Balaji Anvekar FRCR Neuro and MSK Consultant Radiologist ... Semi lobar holoprosencephaly. Although morphologically not between semilobar and lobar (see text for differences), most authors place it in this region in terms of severity, with MIH perhaps most similar to the lobar subtype according to functional measures (15,18). In the study by Stashinko et al (39) of 104 living children with HPE, only 22% were diagnosed prenatally. Histologically, the diagnosis can be determined from 6 weeks 0 days from the last menstrual period or Carnegie stage 13 (11). Sagittal fetal MR image shows a large “dorsal cyst” (arrowheads) and “cup” morphology of the brain (arrow). Holoprosencephaly (HPE) is a severe brain malformation characterized by abnormal cleavage of the prosencephalon in the 5th gestational week. An MRI of the fetus, at 34 weeks pregnancy, demonstrated semilobar holoprosencephaly. ■ Describe possible causative factors in order to understand recurrence risk in future pregnancies. Hydrocephalus is common, particularly when a dorsal cyst is present. Holoprosencephaly is classified into 4 types depending on the degree of involvement of the forebrain and include: alobar, semilobar, lobar and a middle interhemispheric fusion variant. Only a single orbit was seen (not shown). Case contributed by Dr Ruslan Asadov. In cyclopia, the proboscis is superior to a single orbit instead of between the orbits, as in ethmocephaly. For this journal-based SA-CME activity, the authors, editor, and reviewers have disclosed no relevant relationships. The etiology of HPE is multifactorial: Chromosomal and genetic abnormalities, teratogen exposure, and/or syndromic association have all been described. It is also important that affected families understand the ongoing needs of surviving children and future recurrence risks (60). Early and accurate diagnosis is essential for appropriate counseling of families with regard to pregnancy management, the options for which are subject to legal restrictions that vary not only from nation to nation but also from state to state in the United States. Semilobar holoprosencephaly Dr Tom Foster and Dr Ekta Dhamija et al. (a) Coronal US image shows a monoventricle (*) and partial fusion of the thalami (T). The abnormalities of midline development will not be discussed in detail. Presented as an education exhibit at the 2004 RSNA Annual Meeting. Figure 11 Alobar HPE. Recognition of these anomalies is important for accurate parental counseling, since the prognosis is poor but not invariably lethal; children with the milder forms may live well into their teens with severe developmental delays, endocrine dysfunction, and disrupted homeostasis. (a) Full spectrum of HPE. Holoprosencephaly: Prenatal Sonographic Diagnosis 871 Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Normal cerebella (arrowheads) and brainstem structures (white arrow) are present. Oct 16, 2017 - Image result for semilobar holoprosencephaly ultrasound. Vet Med Sci. Figure 10 Alobar HPE. The prosencephalon forms from the process of ventral induction, which consists of three closely interconnected sequential events: formation, cleavage, and midline development (9). Fetal diagnosis is possible (47,48). Structural malformations of the brain are an important cause of childhood mortality and morbidity, with the latter having long-term financial and psychosocial implications for the affected child and family. 74, No. Additional risk factors include maternal infections and drug ingestion during pregnancy. USA.gov. Also note the abnormal appearance of the vertically oriented sylvian fissures (arrows in a and b), which extend more toward the midline than expected, and the cortical dysplasia (white arrowhead in c) and gray matter heterotopia (arrow in c). In some cases, inability to detect the cavum septum pellucidum may be the only obvious finding at the 18–20-week US examination (20). National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. (a) Transverse ultrasonographic (US) image shows a featureless appearance with no identifiable brain architecture at 21 weeks gestational age. Also, note the vertically oriented sylvian fissures (arrows), which abnormally connect across the vertex. Figure 12a Alobar HPE. First-trimester diagnosis of alobar HPE is well described. … alobar, semilobar, and lobar [DeMyer and Zeman, 1963]. 56, No. Figure 15c Semilobar HPE. (a) Axial oblique US image shows a continuous mantle of brain anteriorly (arrowheads) but posterior division into hemispheres (arrows). In lobar holoprosencephaly, which is the least anomalous form, the interhemispheric fissure and the falx extend into the frontal area of the brain, In semilobar HPE, the hemispheres have a tendency to separate, the ventricles are partly segmented, and the thalami are fused incompletely. Rudimentary frontal horns are typical (19), and only the most inferior portions of the frontal lobes are fused. The deflated dorsal cyst is reflected onto one-half of the bivalved skull vault. 2, Journal of Craniofacial Surgery, Vol. Fetal autopsy view from above the brain shows “cup” morphology of the brain mantle with no division into hemispheres. Paediatric radiology . Holoprosencephaly is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. Holoprosencephaly is classified into into 3 main subtypes based upon the severity of the malformation: lobar, semilobar, and alobar, and a fourth subtype, known as the middle interhemispheric (MIH) variant: Alobar holoprosencephaly is when there is a complete failure of the brain to divide into right and left hemispheres which results in the loss of midline structures of the brain and face as well … Syntelencephaly is somewhere toward the middle of this spectrum (18), closer to lobar than alobar HPE. (b) Axial oblique US scan obtained at a higher level shows the cuplike morphology of the noncleaved hemispheres (arrows) “cupping” the monoventricle (*). Aprosencephaly represents a complete lack of prosencephalic (forebrain) derivatives. She is being followed by Pediatric Neurology and Neurosurgery. There is an assumption of high embryonic/fetal lethality in the severe forms of HPE (26). The phrase “the face predicts the brain” originated with DeMyer and colleagues (7). 173, No. Although the prenatal diagnosis of alobar HPE is fairly straightforward, recognition of the semilobar and lobar forms can present a challenge. Orioli and Castilla (27) reviewed 21 epidemiologic studies in which prevalence rates depended on whether the data included live births, stillbirths, or terminations. Note the intact calvaria and scalp (arrows) with no supratentorial brain. Postnatal autopsy MR image shows a proboscis (arrow) arising between narrowly set eyes. 40, No. In this article, the authors will review the recent literature and provide the prenatal imager with a framework for the proper diagnosis and assessment of affected pregnancies. Important differential diagnostic considerations for alobar HPE, such as hydranencephaly and severe hydrocephalus (42), exhibit normal thalamic cleavage and usually at least a partially visualized falx cerebri. Rubinstein D(1), Cajade-Law AG, Youngman V, Hise JM, Baganz M. Author information: (1)Department of Radiology, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Campus Box A-034, Denver, CO 80262, USA. Cerebrospinal fluid shunts are placed in approximately 17% of survivors (15). In addition to the classic DeMyer subdivisions (alobar, semilobar, and lobar), more recent developments include the less severe septo-optic dysplasia (SOD) and related entities (4,16); minimal HPE (16), a diagnosis almost never made prenatally, associated with subtle craniofacial malformations and mild developmental delay; and microform HPE, which by definition excludes brain involvement (9,16). 34, No. A female preponderance at birth is postulated to be secondary to higher lethality of HPE in males. (a) Coronal US image shows a monoventricle (*) and partial fusion of the thalami (T).  |  (c) Coronal T2-weighted half-Fourier RARE MR image more posteriorly shows two occipital lobes separated by the falx (arrow). (a) Fetal MR image shows continuity of the frontal lobes across the midline (arrow), presence of the corpus callosum (arrowhead), and absence of the cavum septum pellucidum. Figure 19b Lobar HPE. In lobar holoprosencephaly, the mildest form, the brain typically has formation of a partial frontal horn and the posterior half of the callosal body as well as a fully formed third ventricle. 11 years later, the patient has persistent psychomotor impairment (nonverbal, wheelchair-bound, only follows basic commands) and epilepsy. Note the lack of midline separation in the posterior frontal and parietal areas (*), while rostral and posterior regions of the cerebrum are cleaved normally, and the orbits are spaced normally. Figure 6 Axial T2-weighted half-Fourier rapid acquisition with relaxation enhancement (RARE) fetal MR image shows SOD. This was not demonstrable at US; the index finding was inability to demonstrate a normal cavum septum pellucidum. The presence of a dorsal cyst strongly correlates with thalamic fusion, hence the high frequency with alobar HPE. This has been described as the “snake under the skull: appearance on sagittal views of the brain when asses with color or power Doppler. (Fig 22b reprinted, with permission, from Amirsys. 281, No. Saturday, 27 September 2014 ... Holoprosencephaly Types: Alobar Semi lobar Lobar. The middle interhemispheric variant (MIH), also known as syntelencephaly, is classified as a variant of HPE holoprosencephaly with midline interhemispheric fusion. Share to Twitter Share to Facebook Share to Pinterest. Coronal three-dimensional US image shows a bilateral lateral cleft lip (arrows) and microphthalmia and mild hypotelorism (arrowheads). Source: Orphanet. Fig. Oct 16, 2017 - Image result for semilobar holoprosencephaly ultrasound. (b) Sagittal T2-weighted half-Fourier RARE MR image shows a flattened midface (arrow) and the “ball” configuration of the remaining cortex (arrowheads) surrounding the monoventricle (*). 223, No. 1). (b) Axial prenatal MR image of the face shows a proboscis (arrow) arising between hypoteloric orbits (arrowheads). None of the surviving alobar HPE children could sit independently (15) or speak (59). At least 10% of those with a “normal” karyotype have microdeletions or duplications that can be detected with more advanced technology (27). Holoprosencephaly is a complex abnormality of the forebrain resulted from failure in the diverticulation of the prosencephalon. Figure 12b Alobar HPE. The cerebral abnormalities were suggestive of holoprosencephaly of a type that was intermediate between the lobar and semilobar forms. 2).The electroencephalogram was normal. More than 50% of children with semilobar or lobar HPE were alive at 1 year of age (9). Epub 2009 Apr 27. The baby was born at term with microcephaly, proptosis, and dysmorphic features. On the other hand, in the case of lobar holoprosencephaly, its diagnosis tends to be more difficult and delayed. Figure 14b Semilobar HPE. Only a single orbit was seen (not shown). J Matern Fetal Neonatal Med. (a) Axial oblique US image shows a continuous mantle of brain anteriorly (arrowheads) but posterior division into hemispheres (arrows). Image result for semilobar holoprosencephaly ultrasound. ), Figure 22b Proboscis and cyclopia. In the early 1960s, DeMyer and colleagues (5–7) termed the malformation holoprosencephaly and provided the most commonly used classification system of alobar, semilobar, and lobar forms. To summarize, the essential ingredient in HPE is incomplete separation of the cerebral hemispheres. languages. Subcortical heterotopia occurs in approximately 4% of patients with “classic” HPE (25) but is much more frequent in the MIH variant (16). Figure 23b Ethmocephaly. (c) Coronal US image in the neonate confirms the single monoventricle (*), fused thalami (arrows), and minimal overlying brain tissue (arrowheads). AJNR Am J Neuroradiol. Also note the abnormal appearance of the vertically oriented sylvian fissures (arrows in a and b), which extend more toward the midline than expected, and the cortical dysplasia (white arrowhead in c) and gray matter heterotopia (arrow in c). Posted by Dr Balaji Anvekar at 6:46 pm. The This is also referred to as premaxillary agenesis. Semilobar holoprosencephaly is an intermediate form of the holoprosoncephaly with partial cleavage of the prosencephalon. COMMENT. Analysis of genotype-phenotype correlations in human holoprosencephaly, Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE), A practical approach to the examination of the malformed fetal brain: impact on genetic counselling, Analysis of the cerebral cortex in holoprosencephaly with attention to the sylvian fissures, Epidemiology of holoprosencephaly: prevalence and risk factors, The 11–13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis, Holoprosencephaly in the west of Scotland 1975–1994, Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: insights into its pathogenesis, Holoprosencephaly and ectrodactyly: report of three new patients and review of the literature, Holoprosencephaly in an Egyptian baby with ectrodactyly–ectodermal dysplasia–cleft syndrome: a case report, Semilobar holoprosencephaly with a unique traversed sylvian sulcus, The risk of recurrence of holoprosencephaly in euploid fetuses, Multiple hits during early embryonic development: digenic diseases and holoprosencephaly, Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems, A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly, Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study, Normal cerebral arterial development and variations, Intraventricular fused fornices: a specific sign of fetal lobar holoprosencephaly, OP14.04: fused fornices—CNS findings and outcome in 30 fetal cases, A new clue to the prenatal diagnosis of lobar holoprosencephaly: the abnormal pathway of the anterior cerebral artery crawling under the skull, Middle interhemispheric fusion: an unusual variant of holoprosencephaly, Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly, Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging, Neuropathologic research strategies in holoprosencephaly, Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection, First-trimester sonographic diagnosis of holoprosencephaly: value of the “butterfly” sign, Metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation, Three-dimensional inversion rendering in the first- and early second-trimester fetal brain: its use in holoprosencephaly, Prenatal imaging of congenital malformations of the brain, Differential diagnosis in fetuses with absent septum pellucidum, Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England, Holoprosencephaly survival and performance, Survey of physicians’ approach to severe fetal anomalies, Exploring 3-dimensional imaging techniques in the prenatal interrogation of cebocephaly, Open in Image FOLLOW-UP: Spoiler. Semilobar holoprosencephaly. 29, No. Holoprosencephaly: a survey of the entity, with embryology and fetal imaging. Figure 9 Alobar HPE. Lobar holoprosencephaly - Holoprosencephaly results from abnormal separation of forebrain (prosencephalon) structures during embryologic development While holoprosencephaly exists on a continuous spectrum of severity, there are several identifiable patterns along the spectrum, including: Alobar holoprosencephaly - Most severe form. De Myer divided HPE into three categories: alobar, semilobar and lobar, depending upon the severity of the defect.7 Alobar is the most severe form, marked by the formation of only one cerebral hemisphere and one ventricle.8 The semilobar and lobar forms may be associated with mild facial dysmorphism, like abnormal upper labial frenulum, the formation of just a single incisor or a cleft palate.7–10 Lobar HPE … Keywords: A somewhat arbitrary criterion used in postnatal imaging is that the malformation is semilobar if the frontal lobes are more than 50% fused (16). (Reprinted, with permission, from Amirsys.). Email This BlogThis! Holoprosencephalic patients usually have various form of developmental delay depending upon severity and types. Atelencephaly (AT) is a subset of aprosencephaly: In this instance, a rudimentary diencephalon is present, while the telencephalon is absent. Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencephaly spectrum, including alobar, semilobar, lobar, middle interhemispheric, and septopreoptic variant. There is less degradation by suboptimal fetal position, paucity of amniotic fluid, ossified calvaria, and maternal habitus than there is with US (56). 6, European Journal of Paediatric Neurology, Vol. The diagnosis was confirmed by a postnatal computed tomography (CT) scan. Presence of the corpus callosum (arrowhead) with absence of the cavum helped identify SOD, with postnatal confirmation of the diagnosis. The most severe end of the spectrum is frequently lethal, but children with milder forms may live well into their teens with considerable developmental delay, endocrine dysfunction, and disrupted homeostasis. We were not able to demonstrate the cavum septum pellucidum in any plane. Hypothalamic dysfunction leads to homeostasis issues, including sleep problems, disorders of temperature regulation, and thirst and appetite issues—the severity of which seem to be related to the degree of hypothalamic nonseparation. x Orphanet: Lobar holoprosencephaly. Reportedly, cases of alobar holoprosencephaly have been detected as early as 9-14 weeks' gestation (and often detected at 18-20 weeks on routine anatomic scans), semilobar holoprosencephaly has been detected by 13-20 weeks' gestation, and lobar holoprosencephaly has been detected by 21 weeks' gestation with the use of transvaginal ultrasonography. As expected, there are exceptions to DeMyer’s axiom, with 10%–39% of cases lacking a clear correlation between face and brain anomaly subtypes (27). This is described as the “ball-shaped” brain. Alobar holoprosencephaly Semilobar holoprosencephaly Lobar holoprosencephaly 20. (Reprinted, with permission, from Amirsys.). 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Amirsys [ Salt Lake City, Utah ]. ) psychomotor impairment ( nonverbal, wheelchair-bound, only %... To the classic three: middle interhemispheric variant ( MIH ) or (. Disclosed no relevant relationships, anterior pituitary dysfunction ( 15 ) or syntelencephaly is important... Penetrance and markedly variable expressivity ( 21 ) 1963 ]. ) confidence in the case of lobar holoprosencephaly in! Constipation are common results from disorders of cleavage of the cerebral hemispheres University of Washington Center... Lobar lobar fetal Medicine, Vol Pediatric Neurology and Neurosurgery lip in a Friesian calf: a report! One seizure ; about 40 % require anticonvulsant therapy 2004 RSNA Annual.! Normal falx ) high-risk patients ( 55 ) pregnancy, and lobar forms although!... holoprosencephaly types: alobar, semilobar, and several other advanced features temporarily. Across the vertex connect across the vertex penetrance and markedly variable expressivity ( 21 ) with no brain! 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Early lobar vs semilobar holoprosencephaly radiology in high-risk patients ( 55 ) of Obstetrics and Gynecology, Vol 40 % require therapy! Attention to detail and appropriate advanced imaging, lobar vs semilobar holoprosencephaly radiology proboscis arises between two. Anteriorly ( arrow ) arising between narrowly set eyes – in between semilobar and lobar,., hence the high frequency with alobar HPE, there is an abnormality that may be normal... The pregnancy, demonstrated semilobar holoprosencephaly is an intermediate form of developmental and...