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Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):547-550

Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.

Objective: To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly.

Methods: The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Read More

Pediatr Radiol 2020 May 26;50(6):863-868. Epub 2020 Feb 26.

Department of Medical Imaging, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

Background: Septopreoptic holoprosencephaly is a mild form of holoprosencephaly in which the midline non-separation is restricted to the septal or preoptic regions. This entity has only been described in a small case series in which associated intracranial abnormalities were limited to the midline structures.

Objective: To describe the radiologic findings of septopreoptic holoprosencephaly and highlight that it can be associated with a variety of intracranial abnormalities, not merely with abnormalities restricted to midline structures as previously reported. Read More

Ultrasound Obstet Gynecol 2019 Nov 11. Epub 2019 Nov 11.

Academic unit of Radiology, University of Sheffield, UK.

Objective: The primary aim of this paper is to present a retrospective analysis of fetuses in which the cavum septi pellucidi and vergae (CSPV) was not present, or was not in its expected position on in utero MR (iuMR) imaging. We will use this information to describe the possible causes of that finding and provide a diagnostic approach using iuMR imaging.

Methods: This is a retrospective study from a single institution using data from an 18 year period (2000-2017) and it includes fetuses in which the CSPV was not visualised on iuMR. Read More

Int J Pediatr Otorhinolaryngol 2020 Jan 5;128:109705. Epub 2019 Oct 5.

College of Medicine, The Ohio State University, 370 W 9th Ave, Columbus, OH, USA, 43210.

Background: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of upper airway obstruction in neonates. It can occur either associated with a solitary median maxillary central incisor (SMMCI) in 40-75% of cases or as an isolated morphogenic variant. Brain MRI is routinely performed in patients with CNPAS with a SCMMI due to the concomitant risks of intracranial midline defects of the hypothalamic-pituitary axis (HPA), holoprosencephaly, or associated endocrine dysfunction. Read More

Am J Med Genet A 2019 12 9;179(12):2454-2458. Epub 2019 Sep 9.

Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Cases with multiple molecular diagnoses are challenging to diagnose clinically, yet may be resolved by unbiased exome sequencing analysis. We report an infant with developmental delay, severe growth delay, dysmorphic features, and multiple congenital anomalies including retinal coloboma, congenital pyloric stenosis, and circumferential skin creases. Exome sequencing identified a homozygous missense variant in MAPRE2 and a homozygous stopgain (nonsense) variant in CDON. Read More

J Hum Genet 2019 Nov 16;64(11):1127-1132. Epub 2019 Aug 16.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

RAC3 is a member of the Rho GTPases family, which has important regulatory functions in aspects of neuronal morphogenesis. Rho GTPases show a conformational change in two regions (switch I and II) through GTP binding, which provides a platform for selective interactions with functionally diverse proteins. Missense variants in the switch I and II regions of RAC3 were recently suggested to cause severe intellectual disability and brain malformations. Read More

Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476

Fetal Medicine Research Institute, King's College Hospital, London, UK.

Objective: To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.

Methods: This was a retrospective study of prospectively collected data from 100 997 singleton pregnancies attending for a routine ultrasound examination of fetal anatomy, performed according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71 754 had a scan at either 30-34 or 35-37 weeks. Read More

Surg Radiol Anat 2019 Sep 12;41(9):1053-1063. Epub 2019 Jul 12.

School of Anatomical Sciences, Medical School, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Purpose: Imaging modalities such as micro-CT scanning and three-dimensional reconstruction are providing a mechanism for detailed analysis of skeletal components not only of normal specimens but also through revisitation of the abnormal. The aim of this study was to analyse the craniofacial skeleton of five human fetuses with cyclopia by means of micro-CT scanning and three-dimensional reconstruction.

Materials And Methods: The study consisted of five cyclopean individuals from the paediatric collection of the School of Anatomical Sciences, University of the Witwatersrand. Read More

Neuroimaging Clin N Am 2019 Aug 13;29(3):411-421. Epub 2019 Apr 13.

Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milano, Italy.

Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity. This article focuses on the imaging findings of the holoprosencephaly spectrum and septo-optic dysplasia, their epidemiology, embryology, and the common clinical associated anomalies. Knowledge of the imaging features of these disorders is necessary for a correct interpretation of findings and accurate parental counseling. Read More

J Perinatol 2019 08 18;39(8):1072-1077. Epub 2019 Jun 18.

Division of Neurology, Cincinnati Children's Hospital, Cincinnati, OH, USA.

Fetal Magnetic Resonance Imaging (MRI) is increasingly used in prenatal evaluations.

Objective: Identify common brain malformations on fetal MRI and evaluate perinatal course.

Methods: Fetal consultations from 10/2016 to 12/2017 reviewed. Read More

BJR Case Rep 2019 Feb 11;5(1):20180013. Epub 2018 Oct 11.

Head of the department, Radiology and Imaging sciences, IQRAA International Hospitals and Research Center, Kozhikode, Kerala.

Routine antenatal Level II ( anomaly scan) scanning done in a 36-year-old pregnant patient with no history of birth defects in the previous pregnancy showed a 19 weeks fetus with deformed cerebral ventricular cavities, fusion of thalami and craniofacial abnormalities. Diagnosis of semilobar holoprosencephaly with midline cleft lip-cleft palate was given and termination of the ongoing pregnancy was advised in view of the unfavourable outcome. Read More

BMJ Case Rep 2019 May 8;12(5). Epub 2019 May 8.

Medical Imaging Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Intracranial lipoma is a relatively rare benign lesion. Many are incidental findings; however, some others may present with headache, hydrocephalus or other neurological symptoms; thus, correct diagnosis of this condition is important. These lesions are of high signal intensity on T2-weighted MRI and especially those close to cerebrospinal fluid (CSF) spaces, can easily be overlooked in the background of high signal intensity of CSF. Read More

Med Ultrason 2019 May;21(2):163-169

Carol Davila University of Medicine and Pharmacy Department Obstetrics Gynecology, INSMC Polizu Hospital, Bucharest, Romania,.

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. Read More

Front Endocrinol (Lausanne) 2019 28;10:193. Epub 2019 Mar 28.

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environmental and hereditary factors. Here, we report a rare case of OI and PSIS co-occurrence. Read More

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):60-63. Epub 2019 Mar 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. Read More

Prenat Diagn 2019 05 26;39(6):415-419. Epub 2019 Apr 26.

Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil de Canarias, Las Palmas, Spain.

Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. Read More

Eur J Med Genet 2020 Feb 17;63(2):103641. Epub 2019 Mar 17.

Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil. Electronic address:

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Read More

Medicine (Baltimore) 2019 Mar;98(10):e14780

Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Rationale: Holoprosencephaly (HPE) is a severe congenital brain malformation resulting from failed or incomplete forebrain division in early pregnancy.

Patient Concerns: In this study, we reported a 9-month old infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst.

Diagnoses: Potential genetic defects were screened directly using trio-case whole exome sequencing (WES) rather than traditional karyotype, microarray, and Sanger sequencing of select genes. Read More

Morphologie 2019 Jun 7;103(341 Pt 2):122-125. Epub 2019 Mar 7.

Laboratoire d'anatomie, biomécanique et organogenèse, université Libre de Bruxelles, faculté de médecine, Route de Lennik, 808 (CP 619), B 1000 Brussels, Belgium. Electronic address:

Context: The Museum of Anatomy and Embryology Louis Deroubaix attached to the Laboratory of Anatomy, Biomecanics and Organogenesis, ULB, Brussels, possesses in its liquid collections a cephalic extremity of a lamb suffering from strophocephaly. The origins have not been determined. The trunk and the limbs are resected. Read More

J Craniofac Surg 2019 Mar/Apr;30(2):532-534

Division of Pediatric Plastic and Craniofacial Surgery and Division of Neurosurgery, Children's Mercy Hospital, Kansas City, MO.

Macrocephaly diminishes quality of life for children whose head size inhibits independent mobility and appropriate interaction with caregivers. Cranial reduction is a method of addressing these issues, historically with a high morbidity due most commonly to bleeding and shunt complications. The authors present a 9-year-old girl with holoprosencephaly and severe macrocephaly from progressive hydrocephalus who underwent cranial reduction via reverse distraction osteogenesis, a method to slowly reduce the skull volume. Read More

Am J Obstet Gynecol 2019 07 6;221(1):73-74. Epub 2019 Jan 6.

Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Australia.

Taiwan J Obstet Gynecol 2018 Dec;57(6):881-884

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

Case Report: A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. Read More

J Med Genet 2019 03 21;56(3):139-148. Epub 2018 Nov 21.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Background: Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and optic nerve atrophy with no eye fixation. Affected individuals died by the age of 4. Brain MRI demonstrated microcephaly, semilobar holoprosencephaly and agenesis of corpus callosum. Read More

Front Vet Sci 2018 22;5:260. Epub 2018 Oct 22.

Neurology Department, Clinic of Small Animal Surgery, Vetsuisse-Faculty Zurich, Zurich, Switzerland.

Corpus callosum abnormalities (CCA) rarely occur in dogs and are related to hypo/adypsic hypernatremia and seizures. Hypoplasia and dysplasia of the corpus callosum (CC) with concomitant lobar holoprosencephaly is the most common variant. It is currently uncertain using conventional MRI if canine CCA reflects the failure of commissural fibers to develop or the failure of the commissural fibers to cross hemispheres. Read More

JFMS Open Rep 2018 Jul-Dec;4(2):2055116918801602. Epub 2018 Sep 20.

Veterinary Medical Center, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Hokkaido, Japan.

Case Summary: A 2-year-old neutered female domestic shorthair cat presented with a history of hypodipsia, recurrent hypernatraemia, pelvic limb ataxia and tremor. The serum arginine vasopressin level was low for the serum osmolality. MRI of the brain revealed a failure of separation of the cerebrum, which manifested as absence of the rostral part of the corpus callosum, fornix and septum pellucidum, thus resulting in a single fused ventricle. Read More

Am J Med Genet C Semin Med Genet 2018 06;178(2):122-127

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Holoprosencephaly (HPE) consists of a spectrum of malformations related to incomplete separation of the prosencephalon. There is a wide clinical variability depending on the HPE subtype seen on imaging. Early postnatal lethality is common, however a significant fraction of newborns diagnosed with HPE will survive into childhood and even adulthood. Read More

Am J Med Genet C Semin Med Genet 2018 06;178(2):198-205

Center for Human Genetics Regensburg, Regensburg, Germany.

Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed postmortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with markedly reduced penetrance and extremely broad clinical variability even between mutation carriers within the same families. We here present advances in prenatal imaging over the last years, increasing the proportion of individuals with HPE identified prenatally including milder HPE forms and more frequently allowing to detect more severe forms already in early gestation. Read More

Am J Med Genet C Semin Med Genet 2018 06;178(2):117-121

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

Am J Med Genet C Semin Med Genet 2018 06;178(2):214-228

Department of Pathology, CHU Sainte-Justine-Chemin de la Côte Sainte-Catherine, Université de Montreal, Montreal, Québec, Canada.

Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. The spectrum of HPE is very broad and encompasses various neuropathological phenotypes of different severity. The recent literature has demonstrated that the phenotypic variability of HPE ranges from aprosencephaly-atelencephaly, at the most severe end, to milder forms such as the "middle interhemispheric variant" of HPE at the less severe end of the spectrum. Read More

J Ultrasound Med 2019 Mar 31;38(3):805-809. Epub 2018 Aug 31.

Fetal Imaging Unit, FETALMED-Maternal-Fetal Diagnostic Center, Santiago, Chile.

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Read More

Medicine (Baltimore) 2018 Jul;97(29):e11521

Department of Obstetrics, Gynecology and Neonatology, Carol Davila University of Medicine and Pharmacy, Sf Ioan Emergency Hospital, Bucharest, Romania.

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. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.

Patient Concern: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. Read More

Sci Rep 2018 Jul 11;8(1):10439. Epub 2018 Jul 11.

Department of Cardiovascular Medicine, BHF Centre of Research Excellence, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom.

ZIC2 mutation is known to cause holoprosencephaly (HPE). A subset of ZIC2 HPE probands harbour cardiovascular and visceral anomalies suggestive of laterality defects. 3D-imaging of novel mouse Zic2 mutants uncovers, in addition to HPE, laterality defects in lungs, heart, vasculature and viscera. Read More

Pediatr Neurosurg 2018 14;53(5):337-341. Epub 2018 Jun 14.

Division of Neonatal and Developmental Medicine, Department of Pediatrics, School of Medicine, Adiyaman University, Adiyaman, Turkey.

Holoprosencephaly is a rare congenital malformation resulting from an impaired midline division of the prosencephalon into distinct cerebral hemispheres. Hydrocephalus is a frequent problem among the few survivors with alobar holoprosencephaly (aHPE), its most severe form. The literature about neurosurgical management of hydrocephalus in this condition is limited and dispersed, and there are still some points that need to be resolved. Read More

Am J Med Genet C Semin Med Genet 2018 06 22;178(2):258-269. Epub 2018 May 22.

Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.

Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. Read More

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):206-213. Epub 2018 May 17.

Division of Radiology, Children's National Health System, Washington, DC.

Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Read More

Bratisl Lek Listy 2018;119(5):272-274

Objectives: To analyze a rare triad of intracranial fetal pathologies and clinical study of the novel defined sequence pathogenesis based on prenatal and postmortem findings.

Methods: Complex multidisciplinary clinical analysis and review of up-to-date literature.

Results: In an 18-gestational-week fetus the screening ultrasound scan resembled the semilobar type of holoprosencephaly and oral tumor. Read More

Pan Afr Med J 2017 1;28:193. Epub 2017 Nov 1.

Service de Pédiatrie, UFR des Sciences de la Santé, Université Gaston Berger de Saint-Louis, Sénégal.

Holoprosencephaly (HPE) is a serious brain malformation due to a failure of medial forebrain cleavage. This is an abnormality which is more often associated with craniofacial malformations, psychomotor development delay, diabetes insipidus and variable endocrine disorders. It is due to different causes including chromosomal abnormalities (trisomy 13, 18)and polymalformative syndromes (CHARGE Syndrome). Read More

Interv Neuroradiol 2018 Aug 28;24(4):463-468. Epub 2018 Mar 28.

3 Toronto Western Hospital & University Health Network, University of Toronto, Toronto, Canada.

ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries ("twig-like" pattern), stenosis/occlusions, proximal dilatation, and absent "moyamoya" type of collaterals. We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the "twig-like" pattern may not only be a pathognomonic feature of ACTA2 mutations. Read More

Arch Argent Pediatr 2018 Feb;116(1):e130-e134

Tepecik Training and Research Hospital, Department of Neonatology, Izmir,Turkey.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Read More

Semin Fetal Neonatal Med 2018 04 9;23(2):102-111. Epub 2017 Dec 9.

Department of Obstetrics and Gynaecology, University of Melbourne, Heidelberg, Victoria, Australia; Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia; Public Health Genetics Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Read More

Pediatr Neurol 2018 02 27;79:76-77. Epub 2017 Oct 27.

Department of Pediatrics, Chonbuk National University School of Medicine, Jeonju, Republic of Korea. Electronic address:

Am J Med Genet A 2017 Dec;173(12):3216-3220

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. Read More

Genet Med 2018 01 22;20(1):14-23. Epub 2017 Jun 22.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Read More

Radiol Clin North Am 2017 Jul;55(4):609-627

Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation. Read More

J Ultrasound Med 2017 Sep 19;36(9):1809-1817. Epub 2017 May 19.

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.

Objectives: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes.

Methods: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies. Read More

J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.

Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.

In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p. Read More

J AAPOS 2017 02 9;21(1):52-56. Epub 2017 Jan 9.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:

Purpose: To demonstrate how multichannel visual evoked potentials (VEPs) can provide quantitative measures of visual function in children with marked cortical anatomy abnormalities.

Methods: Four children with marked brain pathology (2 holoprosencephaly, 2 giant interhemispheric cysts with hydrocephalus) underwent pattern reversal and flash VEP recordings from 16 equally distributed electrodes. Voltage maps of the major VEP components were constructed, and their distributions were compared to the magnetic resonance imaging (MRI) findings. Read More

Rom J Morphol Embryol 2017 ;58(4):1555-1559

2nd Obstetrics and Gynecology Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania;

Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide the orbits of the eye in two cavities. We report the case of a 15-year-old pregnant patient, who delivered a 34-week living fetus with alobar HPE, cyclopia and proboscis. The patient did not have any routine scans during pregnancy; her first obstetrical exam was performed at 29 weeks of gestation (WG), when a prenatal ultrasound found a fetus with alobar HPE, cyclopia, proboscis, polydactyly and single umbilical artery. Read More

J Med Case Rep 2016 Dec 20;10(1):358. Epub 2016 Dec 20.

Department of Pediatric Cardiology, Jakaya Kikwete Cardiac Institute, PO Box 65141, Dar es Salaam, Tanzania.

Background: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations. Read More

Quant Imaging Med Surg 2016 Oct;6(5):525-534

Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.

Background: is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (); and (IV) in association with other skin disturbances [e. Read More