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