The obstetric ultrasound images of the fetal face demonstrate a single midline orbit (Figure 1). Apr 3, 2015 - Alobar Holoprosencephaly: "Pancake brain", absent falx, midline facial defects (proboscis etc) The middle interhemispheric variant of alobar holoprosencephaly is featured by relatively well-formed frontal horns that are fused in the midline without the intervening septum pellucidum and communicate posteriorly with a single rudimentary cavity . Of the 26 cases of holoprosencephaly diagnosed on in utero MR imaging, 12 were not recognized on ultrasonography. BPD. Intracranial and extra­ cranial findings were reviewed to determine the accuracy and spectrum of the sono­ graphic features. The aim of this study was to assess the ultrasound diagnostic criteria for HPE. Download Full PDF Package. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly - Craniofacial Anatomy, Associated Malformations and Genetics. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.. Holoprosencephaly may be associated to other midline defects and may be part of an aneuploidy such a trisomy 13 (Patau's syndrome). A short summary of this paper. AIM Holoprosencephaly (HPE) is the most common brain malformation. Holoprosencephaly is a congenital Induction disorder of the brain occurring at 3-6 weeks' gestation, with failed segmentation of the neural tube. Discussion: Typical findings of holoprosencephaly in its alobar form as it's supposed to be imaged in the first trimester. Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Issue Date: 1999: Publisher: John Wiley & Sons Ltd. ... alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, aqueduct stenosis, Dandy-Walker continuum, Chiari II ... mainly holoprosencephaly. Typical findings of holoprosencephaly in its alobar form as it's supposed to be imaged in the first trimester. (From Blaas H-GK, Eriksson AG, Salvesen KA, et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Ultrasound Obstet Gynecol 19:24–38, 2002.) Aneuploidy is present in 50% to 60% of fetuses with alobar or semilobar holoprosencephaly. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. Bookmarks (0) Brain. Alobar holoprosencephaly with cyclopia. Our findings are in agreement with other studies that show holoprosencephaly is associated with chromosomal abnormalities, especially trisomy 13. Pathology-Based Diagnoses. Download PDF. Primacy in the neuropathologic description of HPE is attributed to Kundrat in 1882 (), who used the term arhinencephaly for this entity. 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. Coronal imaging of the brain (Figure 3) demonstrates a monoventrical with lack of interhemispheric fissure and falx cerebri. Diagnosis of alobar holoprosencephaly can be made by antenatal ultrasound or fetal MRI; however, postnatal imaging is rarely done because most affected infants are either stillborn or have short life span; Holoprosencephaly is the only congenital brain anomaly in which posterior portion of corpus callosum has formed in absence of anterior portion Prenat Diagn. Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is rec-ommended. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature. Knowledge of the range of malformations encountered in holoprosencephaly will help the sonographer accurately identify the findings. Diagnosis. A study of 35 fetuses with holoprosencephaly compared the accuracy of the diagnosis between ultrasound and in utero MRI. Images 3, 4: 3D ultrasound of the fetal face (18 weeks). A. MRI of alobar holoprosencephaly (holoprosencephaly), the most severe form of holoprosencephaly, characterized by an enlarged midline monoventricle (holoventricle, red/thin arrow) with fusion of the frontal lobes and the midline gray matter structures (thalami and basal ganglia, blue/thick arrow). Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. The Cleft Palate-Craniofacial Journal, 2009. Two years later, a subse-quent pregnancy was normal. The alobar subtype was the most frequently encountered, with 17 cases (68%). Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE. Discussion ETIOLOGY Holoprosencephaly is usually sporadic, and the cause is unknown in most cases.5 It can be caused A. Kuijpers-Jagtman. There were 9 false negative in utero MRI findings. Of the various types of chromosomal abnormalities, trisomy 13 or a variant of trisomy 13 is the most common (found in 50-75% of those with abnormal karyotype). Findings. Holoprosencephaly Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Premaxillary agenesis with cleft lip with or without cleft palate are also abnormalities that can be identified by prenatal ultrasonography [2–4]. This paper. Typical ultrasound findings of alobar holoprosencephaly are absence of the falx and other midline structures with anterior complete fusion of the lateral ventricles [2–4]. A series of 10 consecutive cases of alobar holoprosencephaly is described. Axial imaging of the fetal brain shows fused thalami (Figure 2). The findings of the autopsies confirmed the clinical presentations. More like this: First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Apr 30, 2015 - Semilobar Holoprosencephaly: Single ventricular chamber, Rudimentary falx and fissure. The alobar subtype was the most frequently encountered, with 17 cases (68%). Fetal MRI was performed and the findings were confirmed. We conclude that fetuses with HP can exhibit a spectrum of sonographic findings and that alobar or semilobar HP is reliably distinguished from other causes of fetal hydrocephalus by distinctive intracranial findings. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Holoprosencephaly. Holoprosencephalic patients usually have various form of developmental delay depending upon severity and types. Similar findings are expected with the semilobar type. link. The pregnancy miscarried at 23 weeks. Third-trimester fetus with alobar HPE and an unusual agnathia-otocephaly variant (B). Alobar holoprosencephaly: prenatal ultrasound 1st trimester. One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen. The most common 7 Importantly, in our series we found that, in 20% (95% CI 4–48%) of women with a confirmed euploid fetus, there was a recurrence of holoprosencephaly. 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. Abnormal OB ultrasound, GW 31 + 0. Keywords holoprosencephaly , alobar , semilobar , lobar , agenesis of corpus callosum , cyclopia , cebocephaly , midline cleft lip , sonography , prenatal diagnosis Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Images 1, 2: Fetal face by ultrasound (coronal and axial - 18 weeks) shows small head and protuberant orbits. Disorders of Diverticulation/Cleavage. Congenital Malformations. 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. Holoprosencephaly may be associated to other midline defects and may be part of an aneuploidy such a trisomy 13 (Patau's syndrome). A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. US image is a section through the ears, maxilla, and ball-like proboscis (A). Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature. These sonographic findings suggested a diagnosis of alobar holoprosencephaly (see Figures 1–7). Image 5: Ultrasound view of the fetal profile. Note the hypotelorism. Pathological examination of the fetus confirmed alobar holoprosencephaly. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252: Citation After counseling, the patient decided to ter-minate the pregnancy. Holoprosencephaly is a severe brain anomaly characterized by different degrees of fusion of the lateral ventricles resulting from failure of the prosencephalon to cleave during early embryogenesis. Patient concern: The main knowledge added by this case is the … An Unusual agnathia-otocephaly variant ( B ) obstetric ultrasound images of the fetal.! Performed and the findings of holoprosencephaly which have been reported during the last in! 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