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Life (Basel) 2022 May 29;12(6). Epub 2022 May 29.

Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center, Rappaport Faculty of Medicine, The Technion, Haifa 31048, Israel.

This paper describes the contemporary state of knowledge regarding processes that regulate normal development of the embryonic-fetal central nervous system (CNS). The processes are described according to the developmental timetable: dorsal induction, ventral induction, neurogenesis, neuronal migration, post-migration neuronal development, and cortical organization. We review the current literature on CNS malformations associated with these regulating processes. Read More

NPJ Genom Med 2022 May 13;7(1):31. Epub 2022 May 13.

Maternal and Child Health Hospital of Hubei Province, Hubei, 430070, China.

Structural anomalies of the central nervous system (CNS) are one of the most common fetal anomalies found during prenatal imaging. However, the genomic architecture of prenatal imaging phenotypes has not yet been systematically studied in a large cohort. Patients diagnosed with fetal CNS anomalies were identified from medical records and images. Read More

JFMS Open Rep 2022 Jan-Jun;8(1):20551169221082542. Epub 2022 Mar 23.

Department of Veterinary Clinical Sciences, Purdue University, West Lafayette, IN, USA.

Case Summary: A 2-year-old female spayed domestic shorthair cat was presented with a history of collapse, possible hypodipsia/adipsia, severe dehydration and hypernatremia. MRI of the brain revealed a failure of separation of the cerebral hemispheres as characterized by an absence of the rostral part of the corpus callosum, fornix and septum pellucidum and the presence of a single fused lateral ventricle. A diagnosis of hypodipsic/adipsic hypernatremia with lobar holoprosencephaly was made. Read More

J Matern Fetal Neonatal Med 2022 Mar 10:1-7. Epub 2022 Mar 10.

Obstetric Unit, Department of Medical and Surgical Sciences, University of Bologna and IRCCS Azienda Ospedaliero-Universitaria S. Orsola-Malpighi, Bologna, Italy.

Background: Alobar holoprosencephaly (HPE) is easily detected during a first-trimester screening examination, conversely, recognizing the lesser varieties may be difficult even in the second trimester.

Objectives: To describe the imaging findings of a cohort of fetuses with holoprosencephaly (HPE) and to elucidate the appearances of the different anatomical varieties.

Materials And Methods: We reviewed medical records and stored images of pregnant women referred to our clinic because of a diagnosis or the suspicion of various forms of HPE. Read More

Taiwan J Obstet Gynecol 2022 Jan;61(1):135-137

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

Objective: We present the application of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly (HPE), cyclopia, polydactyly, omphalocele and cell culture failure.

Case Report: A 21-year-old, gravida 2, para 0, woman was referred for termination of the pregnancy at 17 weeks of gestation because of the abnormal ultrasound finding of alobar HPE. The pregnancy was subsequently terminated, and a 118-g malformed male fetus was delivered with cyclopia, bilateral postaxial polydactyly of the hands and ruptured omphalocele. Read More

BMC Vet Res 2022 Jan 20;18(1):51. Epub 2022 Jan 20.

Clinic for Cattle, University of Veterinary Medicine Vienna (Vetmeduni Vienna), Veterinaerplatz 1, A-1210, Vienna, Austria.

Background: Specialized neurons in the diencephalon detect blood hypernatremia in dehydrated animals. These neurons are connected with the pituitary gland, subsequently producing antidiuretic hormone to reabsorb water from urine in the kidneys, and to the forebrain to generate thirst and trigger drinking behavior.

Case Presentation: This is the first case report describing clinical findings, magnetic resonance imaging (MRI) and necropsy results of a Belted Galloway heifer with severe clinical signs of dehydration and hypernatremia, but concurrent adipsia and isosthenuria. Read More

BMJ Case Rep 2022 01 19;15(1). Epub 2022 Jan 19.

Radiology, Datta Meghe Institute of Medical Sciences-Wardha Campus, Wardha, Maharashtra, India.

World Neurosurg 2022 03 22;159:48-53. Epub 2021 Dec 22.

Division of Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Rhombencephalosynapsis is a rare congenital anomaly, characterized by partial or total agenesis of the cerebellar vermis with midline fusion of the cerebellar hemispheres, dentate nuclei, and the superior cerebellar peduncles, creating the distinctive keyhole appearance of the fourth ventricle. Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gómez-López-Hernández syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal atresia and/or tracheoesophageal fistula (TE), and renal (R) and limb/radial (L) anomalies. Recent advances in prenatal imaging have resulted in an increasing rate of prenatal diagnosis of abnormalities of the posterior fossa including rhombencephalosynapsis. Read More

Head Face Med 2021 Nov 23;17(1):49. Epub 2021 Nov 23.

Dental School and Postgraduate School of Orthodontics, Vita-Salute San Raffaele University and IRCCS San Raffaele Hospital, via Olgettina 58, Milan, Italy.

Background: The median solitary maxillary central incisor syndrome (SMMCI) is a rare malformative syndrome consisting of multiple defects, mainly found on the body midline. It can be correlated to the etiopathological and phenotypic pattern of panhypopituitarism. This case-report describes the rare case of a patient suffering from SMMCI and panhypopituitarism, showing an unusual craniofacial morphology. Read More

Taiwan J Obstet Gynecol 2021 Sep;60(5):903-904

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities.

Case Report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Read More

J Orthop Surg Res 2021 Sep 8;16(1):554. Epub 2021 Sep 8.

Deparment of Science, Innovation and Development, Galen-Orthopaedics, 43-150, Bieruń, Poland.

Background: Cyclops lesion is the second most common cause of extension loss after anterior cruciate ligament reconstruction. This study focused on the correlation between the anatomy of the intercondylar notch and the incidence of cyclops lesion. To determine whether the size and shape of the intercondylar notch are related to cyclops lesion formation following anterior cruciate ligament reconstruction according to magnetic resonance imaging (MRI) findings. Read More

J Pediatr 2022 01 4;240:307-308. Epub 2021 Sep 4.

Division of Pediatric Endocrinology, Hasbro Children's Hospital, Providence, Rhode Island; Department of Pediatrics, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.

Development 2021 09 31;148(17). Epub 2021 Aug 31.

Disorders of the Nervous System, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.

Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes. To identify such modifiers, we established novel congenic mouse models. LRP2-deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity. Read More

Genes (Basel) 2021 07 25;12(8). Epub 2021 Jul 25.

Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av Dr Eneas de Carvalho Aguiar, 155, 2 Andar, Bloco 6, São Paulo 05403-000, Brazil.

We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, c.171delT (p. Read More

Radiologia (Engl Ed) 2021 Aug 13. Epub 2021 Aug 13.

Servicio de Radiodiagnóstico, Hospital Universitario Clínico San Cecilio, Granada, España.

Congenital anomalies of the central nervous system comprise a wide spectrum of malformations associated with a wide variety of genetic syndromes and chromosomal anomalies, and they are among the principal causes of morbidity and mortality in infants. Among these anomalies, holoprosencephaly arises from the complete or partial failure of the brain to divide into the cerebral hemispheres. Imaging tests are fundamental for the prenatal diagnosis of holoprosencephaly; the diagnostic process usually starts with sonography and then the findings are refined with fetal MRI. Read More

Handb Clin Neurol 2021 ;181:9-27

Department of Pediatrics, School of Medicine, Democritus University of Thrace, Alexandroupolis, Thrace, Greece. Electronic address:

Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect of the pituitary gland identified by magnetic resonance imaging and characterized by a thin, interrupted, attenuated or absent pituitary stalk, hypoplasia or aplasia of the adenohypophysis, and an ectopic posterior pituitary. The precise etiology of PSIS still remains elusive or incompletely confirmed in most cases. Adverse perinatal events, including breech delivery and hypoxia, were initially proposed as the underlying mechanism affecting the hypothalamic-pituitary axis. Read More

Rom J Morphol Embryol 2020 Oct-Dec;61(4):1309-1316

Department of Genetics, Doctoral School, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;

Holoprosencephaly (HPE) is a dramatic human brain malformation sequence with an extreme variable phenotypic spectrum and genetic heterogeneity, variable degree of severity and unknown etiology, in many cases. HPE is classified into syndromic, chromosomal, and non-syndromic, non-chromosomal. The most cases of HPE are syndromic. Read More

Radiol Case Rep 2021 Jun 17;16(6):1511-1513. Epub 2021 Apr 17.

Department of radiology, Cantonal Hospital "Dr. Safet Mujic," Mostar, Bosnia and Herzegovina.

A fetus with suspicion for holoprosencephaly and various brain malformations were seen on ultrasound and send for magnetic resonance imaging (MRI). Immediately after the birth of the female patient ultrasound and MRI was made which confirmed lobar holoprosencephaly. Fetal MRI stands out as a powerful diagnostic tool for detecting anomalies and other disorders. Read More

Eur J Med Genet 2021 Jul 30;64(7):104233. Epub 2021 Apr 30.

Department of Anatomy, Apollo Institute of Medical Sciences and Research, Jublee Hills, Hyderabad, India. Electronic address:

Primary microcephaly (MCPH) is a rare neurogenic disorder with most cases being inherited in an autosomal recessive pattern. The present report is of a case of second gravid patient with recurrent fetal microcephaly with agenesis of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Maternal TORCH profile and amniotic fluid chromosomal microarray were normal. Read More

Am J Obstet Gynecol 2021 10 31;225(4):446-447. Epub 2021 Mar 31.

Obstetric Unit, Department of Medical and Surgical Sciences, University of Bologna and IRCCS Azienda Ospedaliero-Universitaria S.Orsola-Malpighi, Bologna, Italy.

Clin Dysmorphol 2021 Jul;30(3):159-163

Genetic Medicine Division, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center.

Eur J Obstet Gynecol Reprod Biol 2021 May 15;260:64-69. Epub 2021 Mar 15.

Department of Obstetrics and Gynecology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

Cantrell's pentalogy is a congenital multiple malformation consisting of midline supraumbilical thoraco-abdominal wall defects, anterior and pericardial diaphragm defects, lower sternum defects, ectopia cordis and various intracardiac anomalies. Complete pentalogy is very rare. Some additional anomalies may accompany pentalogy and there are cases in the literature where chromosomal anomalies and pentalogy are seen. Read More

Int J Paleopathol 2021 06 26;33:25-29. Epub 2021 Feb 26.

LABANOF, Laboratorio di Antropologia e Odontologia Forense, Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Via L. Mangiagalli 37, 20133, Milan, Italy.

Objective: This study presents evidence of a probable case of holoprosencephaly with cyclopia, which has been rarely reported in the paleopathological literature.

Materials: The skeletal remains of a male fetus between 36 and 40 gestational weeks from the Collezione Antropologica LABANOF (CAL) Milano Cemetery Skeletal Collection were studied.

Methods: The bones were macroscopically examined, and pathological anomalies were recorded and evaluated alongside paleopathological and clinical literature. Read More

J Clin Ultrasound 2021 Sep 8;49(7):765-769. Epub 2021 Feb 8.

Department of Obstetrics and Gynecology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

Holoprosencephaly ranges in severity based on the degree of anatomic abnormality. Middle interhemispheric variant of holoprosencephaly is a less common and often milder variant that has the characteristic sonographic findings of an absent cavum septum pellucidum and a single fused ventricle. This subtype may be associated with genetic conditions that have not been well-described in the literature. Read More

J Clin Ultrasound 2021 Jul 5;49(6):632-635. Epub 2021 Feb 5.

Department of Perinatology, Etlik Zübeyde Hanım Women's Health Care Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Proboscis lateralis is a very rare congenital craniofacial malformation characterized by a finger-like tubular appendage arising usually from the medial canthal region. It is mostly unilateral and associated with other craniofacial malformations. Occasionally, proboscis lateralis is seen with holoprosencephaly. Read More

Clin Anat 2021 Sep 20;34(6):845-858. Epub 2021 Feb 20.

Department of Medical Biology, Sections Clinical Anatomy & Embryology, Amsterdam University Medical Centers, Location Academic Medical Center, University of Amsterdam, Netherlands.

Shared anomalies, always located close to the area of coalescence and observable in virtually every type of conjoined twinning, are currently seen as separate anomalies caused by mostly unknown and seemingly unrelated pathways rather than being connected to the twinning mechanism itself. Therefore, most (case) reports about conjoined twins are mere descriptions of (external) dysmorphologies lacking reflections on the possible origin of their concomitant anomalies. As we will demonstrate in this article, shared anomalies are influenced, and in some cases solely and sequentially explained, by interaction aplasia and neo-axial orientation; two embryological mechanisms to which each set of conjoined twins is subjected and are responsible for their ultimate phenotypical fate. Read More

J Matern Fetal Neonatal Med 2021 Jan 17:1-9. Epub 2021 Jan 17.

Feto-Maternal Medicine, University Hospitals, Leuven, Belgium.

Objective: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage disorder. In literature, few cases of accurate prenatal diagnosis have been reported. We report on four additional prenatally diagnosed cases. Read More

Pediatr Radiol 2020 12 30;50(13):1934-1947. Epub 2020 Nov 30.

Department of Radiology, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02115, USA.

Fetal MRI is the modality of choice to study supratentorial brain malformations. To accurately interpret the MRI, the radiologist needs to understand the normal sequence of events that occurs during prenatal brain development; this includes familiarity with the processes of hemispheric cleavage, formation of interhemispheric commissures, neuro-glial proliferation and migration, and cortical folding. Disruption of these processes results in malformations observed on fetal MRI including holoprosencephaly, callosal agenesis, heterotopic gray matter, lissencephaly and other malformations of cortical development (focal cortical dysplasia, polymicrogyria). Read More

J Child Neurol 2021 04 23;36(5):357-364. Epub 2020 Nov 23.

Division of Neurology, 2518Cincinnati Children's Hospital, Cincinnati, OH, USA.

Holoprosencephaly is the most common malformation of forebrain development and includes a wide spectrum of severity. The objective of this retrospective study was to evaluate fetal magnetic resonance imaging (MRI) associations with outcome. Of the 63 cases identified on antenatal ultrasonography, 28 cases were confirmed on fetal MRI. Read More

Am J Obstet Gynecol 2020 12 7;223(6):B13-B16. Epub 2020 Nov 7.