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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 Mar 22. Epub 2019 Mar 22.

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

Solitary Median Maxillary Central Incisor Syndrome (SMMCI) 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 2019 Mar 17. 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

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 Mar 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 Jun;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 Jun;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

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 Jun 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

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

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

Radiology 2016 Dec;281(3):969-974

From the Division of Neuroradiology (N.Y., O.R.I., I.I.), Section of Pediatric Neuroradiology, Division of Pediatric Radiology (A.P., T.A.H.), The Russell H. Morgan Department of Radiology and Radiologic Science, and Phelps Center for Cerebral Palsy and Neurodevelopmental Medicine, Kennedy Krieger Institute (A.H.H.), The Johns Hopkins University School of Medicine, 600 N Wolfe St, Phipps B-100, Baltimore, MD 21287.

History A 13-year-old girl presented for evaluation and further management of spastic diplegia cerebral palsy. Absence of the corpus callosum was noted at screening prenatal head ultrasonography. She was born at full term via spontaneous vaginal delivery. Read More

Cleft Palate Craniofac J 2016 11 27;53(6):745-748. Epub 2015 Oct 27.

Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE). Transvaginal three-dimensional (3D) scan performed using the niche-mode technique enabled diagnosis of HPE, hypotelorism, and cleft lip (CL). Read More

J Med Case Rep 2016 Sep 6;10(1):244. Epub 2016 Sep 6.

Dentistry Care, Sobradinho Regional Hospital, Sobradinho, Brasilia, Brazil.

Background: Ameloblastomas are rarely found in pregnant women, with only two cases reported in the scientific literature. We report the first case of ameloblastoma in a pregnant woman in Brazil.

Case Presentation: A 27-year-old white woman, 12-weeks pregnant, presented with a large mass in her right posterior mandible. Read More

Pediatr Neurol 2016 10 10;63:23-38. Epub 2016 May 10.

Department of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. Read More

Ultrasound Obstet Gynecol 2017 Jul 23;50(1):45-48. Epub 2017 Apr 23.

Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King's College Hospital, London, UK.

Objectives: To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks.

Methods: This was a prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test at three maternity units in England. Read More

Arch Clin Neuropsychol 2016 Aug 26;31(5):472-9. Epub 2016 May 26.

Division of Cognitive and Neuropsychology, Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland.

Objective: The middle interhemispheric variant of holoprosencephaly (MIHV) is a mild, rare variant of holoprosencephaly. Only a few cases of children with MIHV have been reported. Here we report in detail an adult case. Read More

Br J Radiol 2016 Jul 19;89(1063):20160115. Epub 2016 Apr 19.

Department of Radiology, Faculty of Medicine, Near East University, Lefkoşa, North Cyprus, Turkey.

Objective: The middle interhemispheric (MIH) variant of holoprosencephaly (HPE) is the incomplete separation of midline cerebral hemispheres with the absence of callosal body. We aimed to describe the additional knowledge of diffusion tensor imaging (DTI) over conventional MRI in the evaluation of patients with MIH variant of HPE.

Methods: Conventional MRI and DTI data of five patients were retrospectively evaluated. Read More

Congenit Anom (Kyoto) 2016 Sep;56(5):237-9

Department of Obstetrics and Gynecology, Iwate Medical University School of Medicine, Morioka, Japan.

Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney. Read More

Eur Rev Med Pharmacol Sci 2016 Mar;20(5):919-22

Department of Pediatrics, Dokkyo Medical University School of Medicine, Dokkyo, Japan.

Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Read More

J Craniofac Surg 2016 Mar;27(2):480-3

*Center for Craniofacial Disorders, Children's Healthcare of Atlanta at Scottish Rite, Atlanta, GA†Advocate Children's Hospital, Park Ridge, IL.

Objective: The authors present our experience using primary Abbe flaps for median cleft lip.

Methods: The records of 9 patients who underwent primary Abbe flaps were reviewed for indications, operative details, and complications. Flap design is discussed, including the "W" method to facilitate columellar reconstruction. Read More

Int J Pediatr Endocrinol 2016 11;2016. Epub 2016 Feb 11.

Division of Pediatric Endocrinology, University of North Carolina at Chapel Hill, Campus Box #7039, Medical School Wing E, Chapel Hill, NC 27599 USA.

Background: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI. Read More

Childs Nerv Syst 2016 May 15;32(5):801-9. Epub 2016 Jan 15.

Department of Neurosurgery, Temple St. Children's University Hospital, Dublin, Ireland.

Objectives: The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patients diagnosed antenatally and postnatally, to determine the accuracy of antenatal diagnosis and to determine the role of neurosurgical intervention in HPE.

Design: This is a retrospective review over a 10-year period.

Patients: Sixty-three patients were included in the study, 45 were diagnosed by antenatal radiological imaging and 18 were diagnosed by postnatal radiological imaging. Read More

Prenat Diagn 2016 Mar 15;36(3):266-73. Epub 2016 Feb 15.

Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.

The fetal central nervous system can already be examined in the first trimester of pregnancy. Acrania, alobar holoprosencephaly, cephaloceles, and spina bifida can confidently be diagnosed at that stage and should actively be looked for in every fetus undergoing first-trimester ultrasound. For some other conditions, such as vermian anomalies and agenesis of the corpus callosum, markers have been identified, but the diagnosis can only be confirmed in the second trimester of gestation. Read More

Am J Med Genet A 2016 Mar 5;170(3):754-9. Epub 2016 Jan 5.

Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been reported in the literature. Read More

Am J Clin Pathol 2016 Jan;145(1):86-95

From the Medical Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School, Boston, MA Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

Objectives: Triploidy (69, XXX; 69, XXY; 69, XYY) accounts for 1% of conceptions, but the affected fetus often does not survive past the first trimester. Fetal development in triploidy is rare. A consecutive series was used to describe the fetal and placental phenotypes and compare them with previous publications. Read More

Morphologie 2016 Mar 3;100(328):7-11. Epub 2015 Dec 3.

Service public de Wallonie, Muséum régional des sciences naturelles, 7, rue des Gaillers, 7000 Mons, Belgique.

Two specimens of cyclotocephalic newborns, coming from museum collections, have been the subject of a comparative morphologic analysis. This one comprised an external examination and a CT scan exploration. If the craniofacial features were similar, one had a quasi-normal brain, while the second specimen displayed alobar holoprosencephaly. Read More

Genet Couns 2015 ;26(3):359-64

Niger J Clin Pract 2015 12;18 Suppl:S31-9

Programme of Bio and Research Ethics and Medical Law, School of Nursing and Public Health and Nelson R Mandela School of Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.

Termination of pregnancy (TOP) or feticide for severe fetal anomalies is ethically and morally challenging and maybe considered illegal in countries with restrictive abortion laws. While diagnostic modalities such as fetal ultrasound, magnetic resonance imaging, and genetic screening have improved prenatal diagnosis, these technologies remain scarce in many African countries making diagnosis and counseling regarding TOP difficult. Ethical dilemmas such as women's autonomy rights may conflict with fetus' right to personhood, and doctor's moral obligations to society. Read More

Virchows Arch 2016 Feb 16;468(2):219-30. Epub 2015 Nov 16.

Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Agenesis of the corpus callosum is currently diagnosed prenatally with ultrasound and MRI. While the diagnostic aspects of callosal defects are widely addressed, anatomo-histological data from fetal autopsies are sparse. Callosal defects were present in 50 fetal autopsies. Read More

AJNR Am J Neuroradiol 2016 Mar 12;37(3):536-43. Epub 2015 Nov 12.

From the Academic Unit of Radiology, University of Sheffield, Sheffield, UK.

Background And Purpose: Holoprosencephaly is a rare developmental brain abnormality with a range of severity. We describe our experience in diagnosing holoprosencephaly in the fetus with in utero MR imaging. We hypothesized that including in utero MR imaging in the diagnostic pathway will improve the detection of holoprosencephaly compared with ultrasonography and allow better assessment of the severity. Read More

Sci Rep 2015 Nov 6;5:16256. Epub 2015 Nov 6.

Center for Biomaterials and Tissue Engineering, Universitat Politècnica de València, Valencia, Spain.

The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Read More