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Macrocephaly-capillary malformation presenting with fetal arrhythmia.  


Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570

Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana



Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature  

Microsoft Academic Search

INTRODUCTION: Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not

Jesus E Dueñas-Arias; Eliakym Arámbula-Meraz; Luis O Frías-Castro; Rosalio Ramos-Payán; Jose A Quibrera-Matienzo; Fred Luque-Ortega; E Maribel Aguilar-Medina



Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria  

Microsoft Academic Search

Macrocephaly-capillary malformation (M-CM) is characterized by prenatal overgrowth, variable somatic and cerebral asymmetry, primary megalencephaly, characteristic facial features, an abnormal neurocognitive profile and cutaneous vascular malformations. It was previously known under the name macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC). However a recent review of the previously reported cases has suggested that the vascular anomalies are not true CMTC but rather capillary

Laura Papetti; Luigi Tarani; Francesco Nicita; Martino Ruggieri; Chiara Mattiucci; Francesca Mancini; Fabiana Ursitti; Alberto Spalice


Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature  

PubMed Central

Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously been reported in association with this syndrome. Case presentation We present a case of a Mexican newborn girl with tetralogy of Fallot associated with macrocephaly-capillary malformation. We discuss the clinical treatment of the patient and its consequences. Conclusion Since physiologic cutis marmorata is a common condition in newborns, the information provided in this report could be helpful in future cases in preventing severe clinical consequences or sudden death in patients with similar symptoms.



Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.  


We report on three patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria-polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes. Based on their characteristic brain malformations they were originally diagnosed with MPPH. In one patient the phenotype evolved during early infancy, and ultimately resulted in a diagnosis of MCM. A second was prenatally diagnosed with MPPH, but postnatally visualized capillary malformations led to a diagnosis of MCM. In a third, the original MPPH diagnosis was reconsidered after a critical review revealed additional subtle findings suggestive of MCM. Characteristic brain malformations are thought to distinguish between MPPH with perisylvian polymicrogyria, and MCM with megalencephaly with Chiari 1 malformation. However, polymicrogyria was reported in a significant number of patients with MCM. Conversely, upon review of imaging studies of patients with MPPH, we noted progressive crowding of the posterior fossa and acquired tonsillar herniation, a process deemed characteristic for MCM. Thus, neither polymicrogyria nor acquired tonsillar herniation are distinguishing features, and occur in both disorders. In addition to brain abnormalities, shared findings include cognitive impairment, coarse facial features and postaxial polydactyly. Facial nevus flammeus and cutis marmorata are most noticeable in infancy, and ligamentous laxity and redundant soft tissue are somewhat subjective findings. While asymmetric overgrowth is considered typical for MCM, it is not universally present. These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH-CM syndrome be used to describe this spectrum. PMID:19353582

Gripp, Karen W; Hopkins, Elizabeth; Vinkler, Chana; Lev, Dorit; Malinger, Gustavo; Lerman-Sagie, Tally; Dobyns, William B



Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.  


Macrocephaly-capillary malformation (M-CM) is characterized by prenatal overgrowth, variable somatic and cerebral asymmetry, primary megalencephaly, characteristic facial features, an abnormal neurocognitive profile and cutaneous vascular malformations. It was previously known under the name macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC). However a recent review of the previously reported cases has suggested that the vascular anomalies are not true CMTC but rather capillary malformations. The diagnosis is primary clinical and different criteria have been proposed for this purpose. However, M-CM is frequently associated with structural brain abnormalities that should be properly investigated and monitored because of their possible progressive development. We report the neuroradiological and morphological features observed in a girl with M-CM and we compared them with proposed diagnostic criteria found in the literature. PMID:21354731

Papetti, Laura; Tarani, Luigi; Nicita, Francesco; Ruggieri, Martino; Mattiucci, Chiara; Mancini, Francesca; Ursitti, Fabiana; Spalice, Alberto



Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.  


Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria. PMID:21077203

Martínez-Glez, Víctor; Romanelli, Valeria; Mori, María A; Gracia, Ricardo; Segovia, Mabel; González-Meneses, Antonio; López-Gutierrez, Juan C; Gean, Esther; Martorell, Loreto; Lapunzina, Pablo



Macrocephaly-capillary malformation: a report of three cases and review of the literature.  


Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) is a rare syndrome that was first delineated as distinct from Cutis Marmorata Telangiectatica Congenita (CMTC) in 1997. Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature. The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains. We report three new patients seen at the University of Miami Genodermatoses Clinic with features of M-CMTC. We believe the skin findings in our patients and in the previously published cases of M-CMTC are more consistent with capillary malformations rather than true CMTC. Therefore, we agree with recent publications that this condition be renamed Macrocephaly-Capillary Malformation (M-CM). The differential diagnoses for patients with M-CMTC include Klippel Trenaunay Syndrome (KTS) and Proteus or Proteus-like syndromes. Given the significant prognostic and likely genetic differences among these conditions it is important to distinguish M-CMTC from these syndromes. PMID:19706101

Gonzalez, Mercedes E; Burk, Cynthia J; Barbouth, Deborah S; Connelly, Elizabeth Alvarez


Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.  


We report a series of four patients with macrocephaly-capillary malformation (M-CM) who are the first ever reported M-CM patients among Chinese individuals. The salient clinical features and recent diagnostic criteria are discussed. M-CM is a multisystem disease characterized by macrocephaly and cutaneous vascular malformation. Neurodevelopmental abnormalities such as developmental delay, structural brain malformation, and hydrocephalus are common, and thus vigilant clinical and neuroradiological assessment is essential during the first few years of life. Cardiac and tumour surveillance would also be beneficial in selected cases. PMID:22258436

Luk, Ho Ming; Lo, Ivan F M; Lai, Carman W S; Yeung, Wai Lan; Lam, Stephen T S



Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)  

Microsoft Academic Search

This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly),\\u000a capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern,\\u000a central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of

Pablo Lapunzina; Jill Clayton-Smith


Diagnosis and management of extensive vascular malformations of the lower limb part ii. systemic repercusion, diagnosis and treatment  

Microsoft Academic Search

At least nine types of VMs with specific clinical and radiological characteristics must be distinguished in the lower limbs: Klippel- Trenaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes-Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive VMs are often more complex than they appear, and require a multidisciplinary therapeutic approach.

Pedro Redondo; Leyre Aguado; Antonio Martínez-Cuesta


Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.  


There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870

Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio



Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment.  


At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions. PMID:22000871

Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio



The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.

Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.



Fraser-Cryptophthalmos syndrome with cardiovascular malformations: a rare association.  


Fraser-Cryptophthalmos syndrome is a multiple malformation disorder associated variably with cryptophthalmos (hidden eye), anomalies of the head, nose and ears; syndactyly, renal and genital malformations. In this report, we describe a case of Fraser syndrome with cardiovascular malformations: coarctation of aorta, an association not previously described. PMID:14530551

Hambire, Srinivas D; Bhavsar, Priyanka P; B, Meenakshi; Jayakar, Anagha V



Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.  


Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with either arteriovenous malformations or arteriovenous fistulas in both the affected individual and other members of their family. We describe 2 new familial cases of this syndrome that were clinically and genetically diagnosed and studied in our hospital. PMID:23933248

Català, A; Roé, E; Vikkula, M; Baselga, E



Neurocutaneous vascular syndromes.  


There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research. PMID:20582592

Puttgen, Katherine B; Lin, Doris D M



Syndromes associated with vascular tumors and malformations: a pictorial review.  


Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system has been strongly recommended in recent years because of the need for separate therapeutic measures for patients with vascular tumors and malformations. In the ISSVA classification system, vascular tumors, which are neoplastic, are distinguished from vascular malformations, which are caused by vascular structural anomalies and are not neoplastic, on the basis of the presence or absence of neoplastic proliferation of vascular endothelial cells. It is important that radiologists be familiar with the development, diagnosis, and treatment of vascular tumors and malformations, especially the imaging features of low- and high-flow vascular malformations. Some vascular tumors and malformations develop in isolation, whereas others develop within the phenotype of a syndrome. Syndromes that are associated with vascular tumors include PHACE syndrome. Syndromes that are associated with vascular malformations include Sturge-Weber, Klippel-Trénaunay, Proteus, blue rubber bleb nevus, Maffucci, and Gorham-Stout syndromes, all of which demonstrate low flow, and Rendu-Osler-Weber, Cobb, Wyburn-Mason, and Parkes Weber syndromes, all of which demonstrate high flow. Because imaging findings may help identify such syndromes as systemic, it is important that radiologists familiarize themselves with these conditions. PMID:23322836

Nozaki, Taiki; Nosaka, Shunsuke; Miyazaki, Osamu; Makidono, Akari; Yamamoto, Asako; Niwa, Tetsu; Tsutsumi, Yoshiyuki; Aida, Noriko; Masaki, Hidekazu; Saida, Yukihisa


Malformations among the X-linked intellectual disability syndromes.  


Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. © 2013 Wiley Periodicals, Inc. PMID:24166814

Stevenson, Roger E; Schwartz, Charles E; Rogers, R Curtis



Venous thoracic outlet syndrome caused by a congenital rib malformation  

PubMed Central

Summary Venous thoracic outlet syndrome (VTOS) represents a rare disorder. Hypertrophy of the anterior scalene musculature is the cause of the compression syndrome in most cases. To our knowledge, we describe the first reported case worldwide of a venous compression syndrome caused by a congenital malformation of the 1st and 2nd ribs. Treatment by transaxillary partial rib resection was necessary and a very good postoperative result was achieved.

Kirschbaum, Andreas; Palade, Emanuel; Csatari, Zoltan; Passlick, Bernward



Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome.  


Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital vascular disorder characterized by cutaneous haemangiomas, venous varicosities, and hypertrophy of the osseous and soft tissue. Various vascular anomalies of the central nervous system have been described in this syndrome. Two previous associations between KTWS and spinal cord cavernous malformations have been reported in the English literature. In this report, we present a patient in whom multiple cavernous malformations located in the conus medullaris region and cauda equina were associated with KTWS. General physical examination as well as neuroradiological and operative findings are described. PMID:23161195

Göksu, Ethem; Alpsoy, Erkan; Uçar, Tanju; Tuncer, Recai


High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.  


Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal cord imaging studies in 27/28 individuals. Posterior fossa crowding with cerebellar tonsillar herniation (CBTH) was noted in 27/28 (96%), and in 10/17 (59%) with serial studies posterior fossa crowding progressed. Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%), and syrinx formation (25%). Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly. Comparison of images obtained in young infants to subsequent studies demonstrated postnatal development of posterior fossa crowding. This process of evolving megalencephaly and cerebellar enlargement is in keeping with mouse model data, delineating abnormal genesis of neurons and glia, resulting in an increased number of astrocytes and enlarged brain volume. In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation. PMID:20425820

Gripp, Karen W; Hopkins, Elizabeth; Doyle, Daniel; Dobyns, William B



Surgical treatment of venous malformations in Klippel-Trénaunay syndrome  

Microsoft Academic Search

Purpose: Klippel-Trénaunay syndrome (KTS) is a complex congenital anomaly, characterized by varicosities and venous malformations (VMs) of one or more limbs, port-wine stains, and soft tissue and bone hypertrophy. Venous drainage is frequently abnormal because of embryonic veins, agenesis, hypoplasia, valvular incompetence, or aneurysms of deep veins. We previously reported on the surgical management of KTS. In this article, we

Audra A Noel; Peter Gloviczki; Kenneth J Cherry; Thom W Rooke; Anthony W Stanson; David J Driscoll



Parry-Romberg syndrome associated with intracranial vascular malformations.  


We describe a 23-year-old woman with iridocyclitis, enophthalmos, facial hemiatrophy, and transient numbness of her contralateral upper and lower extremities. The patient was found to have white matter densities in the right hemisphere in magnetic resonance T2-weighted images and vascular malformations involving right vertebral, right carotid, and right anterior cerebral arteries. Histopathologic evaluation of a biopsy specimen of anterior orbital fat and lacrimal gland revealed fibrosis and chronic inflammation. These findings were consistent with the diagnosis of progressive facial hemiatrophy (Parry-Romberg syndrome) in association with iridocyclitis and intracranial vascular malformations. PMID:9747688

Miedziak, A I; Stefanyszyn, M; Flanagan, J; Eagle, R C



[Polysplenia syndrome: two cases in adults revealed by biliary and pancreatic malformations].  


Polysplenia Syndrome (PS) associates multiple spleens with other malformations usually cardiac, vascular, visceral and biliary. The diversity of these malformations and their embryological mechanisms are described in relation to two cases of PS that were diagnosed in adults. PMID:18166868

Puche, Pierre; Jacquet, Eric; Godlewski, Guilhem; Carabalona, Jean-Pierre; Domergue, Jacques; Navarro, Francis; Prudhomme, Michel



Malformations and the Manx Syndrome in Cats  

PubMed Central

Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.

DeForest, M. E.; Basrur, P. K.



[Chiari type I malformation in a patient with Poland's syndrome].  


Chiari malformation type I and Poland's syndrome are two rare diseases and their simultaneous presentation had not been previously described in the literature. We report the case of a 27 year old male with history of Poland's syndrome, who referred headache and motor impairment of the intrinsic muscles of the left hand. In a cervical spine MR a Chiari I malformation with syringomyelia from C1 to T2 was found, which was treated by foramen magnum decompression, dural plasty and removal of the posterior arch of the atlas. A discussion of the embryological mechanisms that might be involved in the coexistence of these two entities is presented, emphasizing the role of para-axial mesoderm. PMID:22167290

Apellido, Nombre; Alcalá-Cerra, G; Sabogal-Barrios, R; Niño-Hernández, L M; Gutiérrez-Paternina, J J; Moscote-Salazar, L R; Preciado-Mesa, E



Pierre-Robin syndrome associated with Chiari type I malformation  

Microsoft Academic Search

Case reportPierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the

Jangbo Lee; Kazutoshi Hida; Toshitaka Seki; Jun Kitamura; Yosinobu Iwasaki



Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome  

ERIC Educational Resources Information Center

|Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that "Tbx1", a…

Aggarwal, Vimla S.; Morrow, Bernice E.



Urethral and genital malformations in prune belly syndrome.  


In addition to the typical triad of the prune belly syndrome, comprising abdominal wall muscle deficiency, urinary tract dilatation and cryptorchidism, anomalies of the lower urinary tract and genitalia can occur. Between January 1974 and December 1978 we evaluated and treated 19 boys with prune belly syndrome. All boys had an abnormally wide bladder neck and prostatic urethra, and 13 (68 per cent) also had malformations of the bulbous or pendulous urethra and/or corporeal bodies of the penis. Although the etiology of these findings is uncertain we assume that they are part of the same developmental disturbance that affects the remainder of the urinary system. Our description of these urethral and penile abnormalities in boys with prune belly syndrome should provide an impetus to develop a systematic method for seeking and recording these abnormalities, and for establishing their true incidence and clinical relevance. PMID:7057514

Kroovand, R L; Al-Ansari, R M; Perlmutter, A D



Cardiovascular malformations in Malaysian neonates with Down's syndrome.  


A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome. PMID:2148028

Hoe, T S; Chan, K C; Boo, N Y



[Malformation syndromes associated with childhood cancer: an update].  


Biology, genetics and environment of childhood solid tumours set them apart from adult solid tumours. The nature of the progenitor cells from which these tumours arise, and their immature tissue environment, allows childhood solid tumours to develop with fewer defects in cell regulatory processes. Constitutional molecular defects are known to play a role in childhood solid tumours, as shown by the increased incidence of embryonic cancers in children carrying malformations associated with childhood cancer. These rare diagnoses are commonly missed. In this article, we reviewed the spectrum of these tumour predisposition syndromes. PMID:20598868

de Pontual, L; Lyonnet, S; Amiel, J



Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome.

Porter, Forbes D.; Herman, Gail E.



Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by discrete venous malformations of varying size and appearance that are present on the skin and within the gastrointestinal tract. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. A serious complication is gastrointestinal bleeding. Because venous malformations were described historically as cavernous hemangiomas,

Walter K Nahm; Sharon Moise; Lawrence F Eichenfield; Amy S Paller; Laura Nathanson; Denise M Malicki; Sheila Fallon Friedlander



Conus Medullaris Spinal Arteriovenous Malformation in a Patient with Klippel-Trenaunay-Weber Syndrome  

PubMed Central

Summary We describe a 24-year-old woman who presented with twice previously unverified subarachnoid hemorrhages from the conus me-dullaris spinal arteriovenous malformation with Parkes-Weber-syndrome. Spinal MRI examination is considered to be necessary for the diagnosis of Klippel-Trenaunay-Weber syndro-me. For diagnosis of the spinal cord arteriovenous malformation, it is indispensable to search carefully for the presence of accompanying lesions. Transarterial glue embolization is effective for the management of the spinal vascular lesion.

Iizuka, Y.; Suzuki, M.; Komura, S.; Takada, T.; Shimoji, K.



[Cognitive and affective characteristics of children with malformation syndrome].  


The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development (3 with Sotos s., 1 with Williams s.). Psychological disturbances are present and thus divided: light disturbances (affective immaturity, neurotic-depressive organisation) in 11 subjects. Average disturbances (dysharmonious structure, and borderline personality) in 4 subjects; severe disturbances (psychosis) in 1 subject. Besides, above all in the group of subjects with X-Fragile s. and Down s., the tendency to assume behaviour of a regressive type, also postural, emerges. Among the 4 groups it is frequent to resort to defence mechanisms of hypomaniac type, accompanied by the denial of the patient's "sick parts". Another common characteristic concerns the quality of imaginary life which is shown to be repetitive and stereotype in content. Indeed these children's play activity characterized by a limited capacity of symbolization. Instead, when the symbolic process is more developed, contents concerning a deteriorated and destructive image of the Self emerges. Through the evaluation of family dynamics what is more noticeable is that the parent-malformed child interaction appears to be quite nonstimulating and noninvolving or incoherent, lacking in harmony and empathy towards the child's inner world. Indeed we can notice a lack of both verbal and extraverbal exchange of communication and brief interactive sequences which do not usually take into account the child's proposals and an affective tonality of depressive and nonaffective type. Therefore it may be concluded a certain smoothness in the clinical expression of the syndromes considered, both as far as the cognitive deficit entity and the psychic problems are concerned. Referring to the interactive dynamics between parents and children with dismorphic syndrom it seems that the child's pathology becomes the organizational summit of the above-mentioned relational dynamics among most of the patients examined... PMID:8569638

Tosi, B; Maestro, S; Marcheschi, M



Acute Respiratory Distress Syndrome after Onyx Embolization of Arteriovenous Malformation  

PubMed Central

Purpose. We report a case of a 60-year-old male who underwent sequential Onyx embolizations of a cerebral arteriovenous malformation (AVM) which we implicate as the most likely etiology of subsequent acute respiratory distress syndrome (ARDS). Methods. Case report and literature review. Results. Shortly after the second Onyx embolization procedure, the patient declined from respiratory failure secondary to pulmonary edema. Clinical entities typically responsible for pulmonary edema including cardiac failure, renal failure, iatrogenic volume overload, negative-pressure pulmonary edema, and infectious etiologies were evaluated and excluded. The patient required mechanical ventilatory support for several days, delaying operative resection. The patient met clinical and radiographic criteria for ARDS. After excluding other etiologies of ARDS, we postulate that ARDS developed as a result of Onyx administration. The Onyx copolymer is dissolved in dimethyl sulfoxide (DMSO), a solvent excreted through the lungs and has been implicated in transient pulmonary side effects. Additionally, a direct toxic effect of the Onyx copolymer is postulated. Conclusion. Onyx embolization and DMSO toxicity are implicated as the etiology of ARDS given the lack of other inciting factors and the close temporal relationship. A strong physiologic rationale provides further support. Clinicians should consider this uncommon but important complication.

Tawil, Isaac; Carlson, Andrew P.; Taylor, Christopher L.



Malformations in a cohort of 284 women with Mayer-Rokitansky-K?ster-Hauser syndrome (MRKH)  

PubMed Central

Background The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM). Methods 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. Results Classification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women. Conclusions Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.



Congenital Heart Diseases associated with Identified Syndromes and Other Extra-Cardiac Congenital Malformations in Children in Lagos Maladies cardiaques congénitales associées à des syndromes identifiés et extra-Malformations cardiaques congénitales chez les enfants à Lagos  

Microsoft Academic Search

BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To id entify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive study done on childr en with congenital malformations referred to the Lagos University Teaching Hospital, Nigeria (LUTH) for echocardiographic evaluation. A

E. N. Ekure; A. Animashaun; M. Bastos; V. C. Ezeaka


Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome  

Microsoft Academic Search

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed.

C O Gøtzsche; B Krag-Olsen; J Nielsen; K E Sørensen; B O Kristensen



Cerebral haemorrhage in arteriovenous malformation associated with Klippel-Trenaunay syndrome  

Microsoft Academic Search

The computed tomography, magnetic resonance imaging and angiographic findings are described in a patient with Klippel-Trenaunay syndrome, who also had a cerebral haemorrhage from an arteriovenous malformation. The resulting aphasia disappeared completely after resorption of the haemorrhage. In this syndrome, the occurrence of a cerebral angioma has not previously been mentioned in the literature.

H. Jaksch; H. Bewermeyer; H. A. Dreesbach; W.-D. Heiss



Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?  


A 2 year-and seven month-old male boy with vascular malformation and localized soft tissue hypotrophy is reported. Such presentation could represent the mildest end of the spectrum of 'inverse' Klippel-Trenaunay syndrome, a recently proposed disorder presenting with tissue hypotrophy as opposed to partial or complete limb overgrowth of classic Klippel-Trenaunay syndrome. PMID:23000147

Cappuccio, Gerarda; Brunetti-Pierri, Nicola



Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus.  

PubMed Central

Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images

Obrador, S; Soto, M; Silvela, J



Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children  

Microsoft Academic Search

We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic\\/structural\\u000a abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the\\u000a kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal malformations (37.8%).\\u000a Horse-shoe kidney was

Ilmay Bilge; Hulya Kayserili; Sevinc Emre; Ahmet Nayir; Aydan Sirin; Turgut Tukel; Firdevs Bas; Gulleyla Kilic; Seher Basaran; Hulya Gunoz; Memnune Apak



Syndrome de Poland et malformations de la main : à propos d’une série clinique de 37 patients  

Microsoft Academic Search

Introduction. – Poland’s syndrome is a rare malformation which associates thoracic anomalies and anomalies of homolateral upper end. We wish to know the frequency of hand’s malformations in this syndrome in our clinical experience.Matérial and methods. – We have revised 37 patients who were seen initially for a thoracomammary anomaly. This clinical series from plastic surgery service of Toulouse has

L. Foucras; J. L. Grolleau; J. P. Chavoin



The Chiari Pseudotumor Cerebri Syndrome: Symptom Recurrence after Decompressive Surgery for Chiari Malformation Type I  

Microsoft Academic Search

Introduction: The etiology of Chiari malformation type I (CM1) as well as other anomalies associated with CM1 remains poorly defined. We have noted the presence of elevated CSF pressures with small ventricles, consistent with the pseudotumor cerebri (PTC) syndrome in a group of CM1 patients that did not respond over the long term to posterior fossa decompression. In order to

Lisa H. Fagan; Sherise Ferguson; Reza Yassari; David M. Frim



Pulmonary Arteriovenous Malformation in Cryptogenic Liver Cirrhosis Associated with Turner's Syndrome  

PubMed Central

Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) have rarely been reported in association with liver cirrhosis, but there have been no reports of PAVMs occurring in cryptogenic liver cirrhosis associated with Turner's syndrome. We report a case of PAVM that occurred in cryptogenic liver cirrhosis associated with Turner's syndrome.

Kim, Ji Hoon; Jung, Young Kul; Jeong, Eun Seok; Seo, Yeon Seok; Yim, Hyung Joon; Yeon, Jong Eun; Shim, Jae Jeong; Byun, Kwan Soo



[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].  


A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited. PMID:672092

Ruprecht, K W; Majewski, F



Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-M?bius syndrome  

PubMed Central

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

Kaissi, Ali Al; Grill, Franz; Safi, Hatem; Ghachem, Maher Ben; Chehida, Farid Ben; Klaushofer, Klaus



Pierre Robin syndrome associated with bilateral femoral aplasia, shortening of upper extremities, right kidney agenesis and left kidney malformation  

Microsoft Academic Search

A 5-year-old female infant with a extremely rare combination of Pierre Robin syndrome and multiple malformations of the limbs and kidneys is presented. Orthopaedic, hearing, intellectual and speech disabilities and treatment difficulties are discussed.

J. Handži?-?uk; M. Bagatin; V. ?uk



Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome.  


The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed. The distribution of the various karyotypes was 45,X, 58%; mosaic monosomy X, 35%; and structural abnormalities of the X chromosome, 7%. In 46 (26%) of the females a total of 69 cardiovascular malformations were found; aortic valve abnormality (18%) and aortic coarctation (10%) being the most common. There was a significant difference in the prevalence of cardiovascular malformations between 45,X and mosaic monosomy X (38% v 11%), primarily due to a significant difference in the prevalence of aortic valve abnormalities and aortic coarctation. Pulmonary valve abnormalities were seen only in females with mosaic monosomy X but the prevalence was low (3%). No patient with structural abnormalities of the X chromosome had cardiovascular malformations. PMID:7826114

Gøtzsche, C O; Krag-Olsen, B; Nielsen, J; Sørensen, K E; Kristensen, B O



Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings.  


Laryngeal structural anomalies were described in 13 cases of Richieri-Costa Pereira syndrome, and four previously reported cases were reviewed. The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases. PMID:22711187

Miguel, Haline Coracine; Carneiro, Christiano Giácomo; Tabith, Alfredo; Zechi-Ceide, Roseli Maria; Genaro, Katia Flores



Upper limb malformations in DiGeorge syndrome  

SciTech Connect

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions. 13 refs., 2 figs.

Cormier-Daire, V.; Iserin, L.; Sidi, D. [and others



Conus medullaris-cauda arteriovenous malformation and Klippel-Trenaunay syndrome: what is the treatment goal?  


A 29-year-old man with Klippel-Trenaunay syndrome (KTS) presented with a symptomatic conus medullaris-cauda arteriovenous malformation (AVM) manifesting as back and right limb pain, which abruptly worsened with the onset of right limb weakness and urinary retention. He was treated by multisession endovascular embolization resulting in improved neurological status. KTS is a sporadic disease with unknown etiology, but genetic susceptibility may lead to the over-expression of angiogenic factors and increased angiogenesis. KTS may be exceptionally associated with slow-flow spinal AVM, but there is no consensus about the optimal treatment for these symptomatic lesions. Embolization treatment may represent a safe option to minimize complications and possibly improve the neurological status in patients with spinal AVM associated with KTS, if one or both legs are already impaired by hypertrophy or other vascular malformations. Genetic analysis may reveal an underlying angiogenesis change, so closer follow up might be indicated in selected patients. PMID:23438663

Sgubin, Donatella; Kanai, Ryuichi; Di Paola, Francesco; Perin, Alessandro; Longatti, Pierluigi



Resolution of life-threatening dysphagia caused by caudal occipital malformation syndrome following foramen magnum decompressive surgery.  


A Cavalier King Charles Spaniel was presented with acute onset, life-threatening dysphagia suspected to be secondary to medulla oblongata compression caused by caudal occipital malformation syndrome. The patient required urgent tracheostomy tube placement to remain stable and was subsequently cured of the presenting neurological deficits by foramen magnum decompressive surgery. Neurogenic dysphagia is a relatively common presenting sign in human Chiari malformation syndromes, but has not been described as a major clinical sign in veterinary patients. Caudal occipital malformation syndrome should be included in the differential diagnosis list for susceptible breeds presenting with dysphagia. Early recognition favours expeditious surgical intervention and a positive outcome in human patients, and this may also be the case in veterinary patients. PMID:22827623

Graham, K J; Black, A P; Brain, P H



Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.  


Williams-Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion. PMID:22628065

Patil, Siddaramappa J; Madhusudhan, B G; Shah, Sejal; Suresh, P V



Multifocal Cerebral Venous Malformations and Associated Developmental Venous Anomalies in a Case of Blue Rubber Bleb Nevus Syndrome  

PubMed Central

Summary We report a sporadic case of probable BRBN (blue rubber bleb nevus syndrome) with multiple CNS (central nervous system) involvement. These features consisted of multiple VMs (venous malformations) and DVAs (developmental venous anomalies) in supratentorial brain, cerebellum, and diencephalon. Since its first description by Bean, there have been many cases of BRBN manifesting with gastrointestinal bleeding with or without associated hemorrhage. Cases with CNS involvement were rarely reported and many of the descriptions were confusing with different terminologies used to describe them such as capillary venous malformation, hemangiomas, and vascular malformations. The lesions illustrated are venous malformations similar to our case. The association of DVA was recognized in some cases; they are likely to be underestimated when revisiting the published case illustrations. Although our case is sporadic, the link with HHT1 is unlikely despite the involvement of the same chromosome (Ch 9).

Chung, J.I.; Alvarez, H.; Lasjaunias, P.



Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth  

PubMed Central

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders.

Revencu, N.; Boon, L.M.; Dompmartin, A.; Rieu, P.; Busch, W.L.; Dubois, J.; Forzano, F.; van Hagen, J.M.; Halbach, S.; Kuechler, A.; Lachmeijer, A.M.A.; Lahde, J.; Russell, L.; Simola, K.O.J.; Mulliken, J.B.; Vikkula, M.



Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.  


The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders. PMID:23801933

Revencu, N; Boon, L M; Dompmartin, A; Rieu, P; Busch, W L; Dubois, J; Forzano, F; van Hagen, J M; Halbach, S; Kuechler, A; Lachmeijer, A M A; Lähde, J; Russell, L; Simola, K O J; Mulliken, J B; Vikkula, M



[Anorectal malformations].  


Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness. PMID:23992833

Cretolle, C; Rousseau, V; Lottmann, H; Irtan, S; Lortat-Jacob, S; Alova, I; Michel, J L; Aigrain, Y; Podevin, G; Lehur, P A; Sarnacki, S



A case of ruptured renal cortical arteriovenous malformation of the right testicular vein in hemorrhagic fever with renal syndrome  

PubMed Central

Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage, and renal failure. Among the various hemorrhagic complications of HFRS, the spontaneous rupture of an arteriovenous malformation of the testicular vessels with a retroperitoneal hematoma is a rare finding. Here, we report a case of HFRS complicated by a massive retroperitoneal hematoma that was treated with transcatheter arterial embolization.

Lee, Seung Min; Kim, Hong Dae; Lee, Young-Ki



A novel syndrome of lethal familial hyperekplexia associated with brain malformation  

PubMed Central

Background Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in response to tapping of the nasal bridge (glabellar tap) which forms its clinical hallmark. The course of the disease is usually benign with spontaneous amelioration with age. The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR) ?1 and ? subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin. Methods The phenotype of six newborns, belonging to Saudi Arabian kindred with close consanguineous marriages, who presented with hyperekplexia associated with severe brain malformation, is described. DNA samples were available from two patients, and homozygosity scan to determine overlap with known hyperkplexia genes was performed. Results The kindred consisted of two brothers married to their cousin sisters, each with three affected children who presented antenatally with excessive fetal movements. Postnatally, they were found to have microcephaly, severe hyperekplexia and gross brain malformation characterized by severe simplified gyral pattern and cerebellar underdevelopment. The EEG was normal and they responded to clonazepam. All of the six patients died within six weeks. Laboratory investigations, including metabolic screen, were unremarkable. None of the known hyperkplexia genes were present within the overlapping regions of homozygosity between the two patients for whom DNA samples were available. Conclusions We present these cases as a novel syndrome of lethal familial autosomal recessive hyperekplexia associated with microcephaly and severe brain malformation.



GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.  


Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly invariant. Despite these striking brain malformations, individuals with CMS generally do not present with significant neurodevelopmental abnormalities, except for hearing loss. Homozygosity mapping and whole-exome sequencing of DNA from affected individuals in eight families (including the family in the first report of CMS) revealed four molecular variations (two single-base deletions, a nonsense mutation, and a canonical splice-site mutation) in the G protein-signaling modulator 2 gene, GPSM2, that underlie CMS. Mutations in GPSM2 have been previously identified in people with profound congenital nonsyndromic hearing loss (NSHL). Subsequent brain imaging of these individuals revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a CMS diagnosis, but no ventriculomegaly. The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development. PMID:22578326

Doherty, Dan; Chudley, Albert E; Coghlan, Gail; Ishak, Gisele E; Innes, A Micheil; Lemire, Edmond G; Rogers, R Curtis; Mhanni, Aizeddin A; Phelps, Ian G; Jones, Steven J M; Zhan, Shing H; Fejes, Anthony P; Shahin, Hashem; Kanaan, Moien; Akay, Hatice; Tekin, Mustafa; Triggs-Raine, Barbara; Zelinski, Teresa



Moyamoya syndrome associated with ? knife surgery for cerebral arteriovenous malformation: case report.  


A 30-year-old female developed moyamoya syndrome after gamma knife surgery (GKS) for cerebral arteriovenous malformation (AVM), and was treated with bypass surgery. She suffered from flittering scotoma, right transient hemianopsia, and headache for 1 year. Cerebral angiography revealed a Spetzler-Martin grade III AVM located in the left occipital lobe. After staged embolization, GKS was performed with a minimum dose of 20 Gy to the periphery of the nidus at the 50% isodose level of the maximum target dose. Gradual nidus regression was achieved, and the clinical symptoms disappeared completely. However, at 30 months after GKS, the patient suffered transient ischemic attack. Cerebral angiography showed left middle cerebral artery occlusion with moyamoya vessels. The patient underwent direct and indirect bypass surgery. After surgery, the patient was free from ischemic symptoms. Chronic inflammation and long-term changes in expression of cytokines and growth factors after GKS may have triggered this case. PMID:22688073

Uozumi, Yoichi; Sumitomo, Masaki; Maruwaka, Mikio; Araki, Yoshio; Izumi, Takashi; Miyachi, Shigeru; Kato, Takenori; Hasegawa, Toshinori; Kida, Yoshihisa; Okamoto, Sho; Wakabayashi, Toshihiko



The neurophysiological balance in Chiari type 1 malformation (CM1), tethered cord and related syndromes.  


The Chiari malformation (CM) is a syndrome embodied in heterogeneous groups of malformations, spanning from the more benign and known, the CM1, to more complex syndromes such as the rare association with the tethered cord, as spinal lipomas, and the CM2, associated to open spina bifida. The clinical picture may be well expressed and detected at birth or even during intrauterine life, as for CM2, but in the other cases they may run a rather subtle clinical course. The diagnosis of these syndromes is driven by clinical examination and MRI, and it usually requires a multidisciplinary approach in order to plan the therapeutic strategies, such as surgery. Among the diagnostic investigations, the imaging techniques represent the most useful, for their capabilities to detect subclinical lesions, such as syringomyielia and lipoma; the urological investigation is useful to evaluate the urogenital dysfunctions. The neurophysiological investigations represent a non invasive diagnostic procedure to investigate the peripheral nerve, the spinal cord, the brainstem functionalities and more higher brain functions; the nerve conduction studies and the cranial reflexes, the brainstem (BAEP) and the somatosensory (SEPs) evoked potentials (EPs), alone or in combination, can be used for the diagnosis, follow-up and intraoperative monitoring. The most useful diagnostic tools in CM1 are likely represented by the brainstem auditory evoked potentials (BAEPs) and the blink-reflex (BR), while the usefulness of SEPs is still doubtful and debated; in CM2 and tethered cord the neurophysiological techniques can be combined in different ways in order to make a functional balance and to answer specific questions. BAEPs and BR can be useful to investigate the brain stem functionality and SEP to evaluate whether the ascending sensory pathway to the cortex can be hampered at some level; the visual EPs are particularly useful to evaluate the integrity of posterior visual pathway and visual cortex in the case of associated hydrocephalus. In the tethered cord, both nerve conduction study and somatosensory evoked potentials (SEPs) are useful to evaluate motor and sensory dysfunction of the lombosacral roots and nerves and spinal cord for their capability to detect subclinical impairment of conduction along the sensory and motor pathway. Finally, last but not the least, the neurophysiological techniques are remarkably useful during surgery; the intraoperative monitoring (IOM) by means of electromyography and direct nerve stimulation and recordings are able to detect early nerve damage, minimize nerve lesions and optimise the surgical techniques. In the operated children with incomplete removal of lipoma and/or persistent tethering, the recordings of SEP and BAEP are useful to demonstrate a conduction deterioration along the ascending sensory pathway due to increasing tethering of the spinal cord due to somatic growth. PMID:22012627

Vidmer, Scaioli; Sergio, Curzi; Veronica, Saletti; Flavia, Tripaldi; Silvia, Esposito; Sara, Bulgheroni; Valentini, Laura Grazia; Daria, Riva; Solero, Carlo Lazzaro



A case of ruptured renal cortical arteriovenous malformation of the right testicular vein in hemorrhagic fever with renal syndrome.  


Hemorrhagic fever with renal syndrome (HFRS) is an acute viral disease characterized by fever, hemorrhage, and renal failure. Among the various hemorrhagic complications of HFRS, the spontaneous rupture of an arteriovenous malformation of the testicular vessels with a retroperitoneal hematoma is a rare finding. Here, we report a case of HFRS complicated by a massive retroperitoneal hematoma that was treated with transcatheter arterial embolization. PMID:23682233

Lee, Seung Min; Kim, Hong Dae; Lee, Young-Ki; Noh, Jung Woo



NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects  

Microsoft Academic Search

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have

Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S. Alkuraya; Diana J. Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G. Campbell; Alan L. Shanske; Elliott H. Sherr; Ayesha Ahmad; Roxana Peters; Benedict Rilliet; Paloma Parvex; Alexander G. Bassuk; David J. Harris; Heather Ferguson; Chantal Kelly; Christopher A. Walsh; Richard M. Gronostajski; Koenraad Devriendt; Anne Higgins; Azra H. Ligon; Bradley J. Quade; Cynthia C. Morton; James F. Gusella; Richard L. Maas



Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome  

PubMed Central

Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

Desai, Jay; Rosser, Tena



Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.  


Split-hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21-q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27), and SHFM5 (2q31). Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown. The recent identification of submicroscopic tandem chromosome duplications affecting the SHFM3 locus in seven families with non-syndromic SHFM has helped to further unravel the molecular basis of this malformation. In our ongoing studies of the SHFM3 locus in 44 additional cases of syndromic and non-syndromic SHFM, we have identified similar chromosome rearrangements in eight additional cases (18%), using pulsed-field gel electrophoresis (PFGE). We have also utilized real-time quantitative PCR (qPCR) to test for the duplications. Seven of the cases with rearrangements were non-syndromic. The current findings bring the total of SHFM3-associated cases with chromosome rearrangements to 15, which constitute 29% (15 of 51) of the cases screened to date. This includes 9 of 9 cases (100%) with known linkage to the SHFM3 locus, all of whom have non-syndromic SHFM, and 6 of 42 additional cases (14%), four of whom have non-syndromic SHFM. Thus, SHFM3 abnormalities underlie a substantial proportion of SHFM cases and appear to be a more frequent cause of non-syndromic SHFM than mutations in TP63. PMID:16761290

Everman, David B; Morgan, Chad T; Lyle, Robert; Laughridge, Mary E; Bamshad, Michael J; Clarkson, Katie B; Colby, Randall; Gurrieri, Fiorella; Innes, A Micheil; Roberson, Jacquelyn; Schrander-Stumpel, Connie; van Bokhoven, Hans; Antonarakis, Stylianos E; Schwartz, Charles E



Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes.  


The craniofacial complex is anatomically the most sophisticated part of the body. It houses all the major sensory organ systems and its origins are synonymous with vertebrate evolution. Of fundamental importance to craniofacial development is a specialized population of stem and progenitor cells, known as the neural crest, which generate the majority of the bone, cartilage, connective and peripheral nerve tissue in the head. Approximately one third of all congenital abnormalities exhibit craniofacial malformations and consequently, most craniofacial anomalies are considered to arise through primary defects in neural crest cell development. Recent advances however, have challenged this classical dogma, underscoring the influence of tissues with which the neural crest cells interact as the primary origin of patterning defects in craniofacial morphogenesis. In this review we discuss these neural crest cell interactions with mesoderm, endoderm and ectoderm in the head in the context of a better understanding of craniofacial malformations such as in Treacher Collins and 22q11 deletion syndromes. PMID:16712696

Walker, M B; Trainor, P A



Abernethy malformation type II with nephrotic syndrome and other multisystemic presentation: an illustrative case for understanding pathogenesis of extrahepatic complication of congenital portosystemic shunt.  


Abernethy malformation, an extrahepatic congenital portosystemic shunt, is more often diagnosed based on associated cardiac or pulmonary malformation. Although predominately a pediatric diagnosis, "late diagnoses" in adulthood have been reported especially in type II malformations that involve only a partial shunt of portal circulation directly into the inferior vena cava. Aside from the cardiac-related presentation, Abernethy malformation is also associated with multiple liver nodules, either benign or malignant, and pulmonary hypertension. In this report, we present immunoglobulin A glomerulonephritis with nephrotic syndrome as a hitherto unrecognized manifestation of this malformation outside the pediatric population, in a patient who also had pulmonary hypertension and multiple liver tumors. We also propose a pathogenetic basis for this multisystemic presentation that includes release into the systemic circulation of unfiltered bacteria, vasoactive substances, and immunoglobulin A-antigen complexes. PMID:23245671

Schaeffer, David F; Laiq, Simin; Jang, Hyun-Jung; John, Rohan; Adeyi, Oyedele A



Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand\\/foot malformation  

Microsoft Academic Search

Split-hand\\/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21-q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27),

David B. Everman; Chad T. Morgan; Robert Lyle; Mary E. Laughridge; Michael J. Bamshad; Katie B. Clarkson; Randall Colby; Fiorella Gurrieri; A. Micheil Innes; Jacquelyn Roberson; Connie Schrander-Stumpel; J. H. L. M. van Bokhoven; Stylianos E. Antonarakis; Charles E. Schwartz



Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.  


Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders. PMID:23401257

Nathanson, Jared; Swarr, Daniel T; Singer, Amihood; Liu, Mochi; Chinn, Amy; Jones, Wendy; Hurst, Jane; Khalek, Nahla; Zackai, Elaine; Slavotinek, Anne



Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).  


The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are significant causes of infant mortality. These three malformations are thought to share developmental pathogenetic mechanisms. A strong genetic component has been demonstrated earlier, but the underlying genetic etiologies are unknown. Our objective was to identify genetic susceptibility loci for the broad phenotype of LVOT malformations. We genotyped 411 microsatellites spaced at an average of 10 cM in 43 families constituting 289 individuals, with an additional 5 cM spaced markers for fine mapping. A non-parametric linkage (NPL) analysis of the combined LVOT malformations gave three suggestive linkage peaks on chromosomes 16p12 (NPL score (NPLS)=2.52), 2p23 (NPLS=2.41), and 10q21 (NPLS=2.14). Individually, suggestive peaks for AVS families occurred on chromosomes 16p12 (NPLS=2.64), 7q36 (NPLS=2.31), and 2p25 (NPLS=2.14); and for CoA families on chromosome 1q24 (NPLS=2.61), 6p23 (NPLS=2.29), 7p14 (NPLS=2.27), 10q11 (NPLS=1.98), and 2p15 (NPLS=2.02). Significant NPLS in HLHS families were noted for chromosome 2p15 (NPLS=3.23), with additional suggestive peaks on 19q13 (NPLS=2.16) and 10q21 (NPLS=2.07). Overlapping linkage signals on 10q11 (AVS and CoA) and 16p12 (AVS, CoA, and HLHS) led to higher NPL scores when all malformations were analyzed together. In conclusion, we report suggestive evidence for linkage to chromosomes 2p23, 10q21, and 16p12 for the LVOT malformations of AVS, CoA, and HLHS individually and in a combined analysis, with a significant peak on 2p15 for HLHS. Overlapping linkage peaks provide evidence for a common genetic etiology. PMID:19142209

McBride, Kim L; Zender, Gloria A; Fitzgerald-Butt, Sara M; Koehler, Daniel; Menesses-Diaz, Andres; Fernbach, Susan; Lee, Kwanghyuk; Towbin, Jeffrey A; Leal, Suzanne; Belmont, John W



Magnetic Resonance Imaging Features and Classification of Central Nervous System Malformations in Joubert Syndrome  

Microsoft Academic Search

This article examines the magnetic resonance imaging features that typify the Joubert malformation. Specific morphologic features include: (1) dysgenesis of the isthmic portion of the brain stem at the pontomesencephalic junction, (2) abnormally thick superior cerebellar peduncles perpendicular to the brain stem, (3) hypoplasia of the cerebellar vermis with consequent enlargement of the 4th ventricle and rostral shift of the

Ronald G. Quisling; A. James Barkovich; Bernard L. Maria




EPA Science Inventory

ABSTRACT BODY: Phthalate esters (PE) vary greatly in their potency to induce malformations during sexual differentiation in the male rat. Since in vitro assay batteries are currently unable to generate useful information on the potential of chemicals within this class to disrupt ...


Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)  

Microsoft Academic Search

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping

Julia Mayerle; Markus M Lerch; Andreas Tagariello; Klaus Zerres; Peter R Durie; Matthias Beier; Georg Hülskamp; Celina Guzman; Helga Rehder; Frits A Beemer; Ben Hamel; Philippe Vanlieferinghen; Ruth Gershoni-Baruch; Marta W Vieira; Miroslav Dumic; Ron Auslender; Vera L Gil-da-Silva-Lopes; Simone Steinlicht; Manfred Rauh; Stavit A Shalev; Christian Thiel; Andreas Winterpacht; Yong Tae Kwon; Alexander Varshavsky; André Reis; Martin Zenker



VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.  


We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5(Vcc/null)) completely recapitulate the Pcsk5(Vcc/Vcc) phenotype, as does an epiblast-specific conditional deletion of Pcsk5. The C470R mutation ablates a disulfide bond in the P domain, and blocks export from the endoplasmic reticulum and proprotein convertase activity. We show that GDF11 is cleaved and activated by PCSK5A, but not by PCSK5A-C470R, and that Gdf11-deficient embryos, in addition to having anteroposterior patterning defects and renal and palatal agenesis, also have a presacral mass, anorectal malformation, and exomphalos. Pcsk5 mutation results in abnormal expression of several paralogous Hox genes (Hoxa, Hoxc, and Hoxd), and of Mnx1 (Hlxb9). These include known Gdf11 targets, and are necessary for caudal embryo development. We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development. PMID:18519639

Szumska, Dorota; Pieles, Guido; Essalmani, Rachid; Bilski, Michal; Mesnard, Daniel; Kaur, Kulvinder; Franklyn, Angela; El Omari, Kamel; Jefferis, Joanna; Bentham, Jamie; Taylor, Jennifer M; Schneider, Jurgen E; Arnold, Sebastian J; Johnson, Paul; Tymowska-Lalanne, Zuzanna; Stammers, Dave; Clarke, Kieran; Neubauer, Stefan; Morris, Andrew; Brown, Steve D; Shaw-Smith, Charles; Cama, Armando; Capra, Valeria; Ragoussis, Jiannis; Constam, Daniel; Seidah, Nabil G; Prat, Annik; Bhattacharya, Shoumo



Vascular malformations in childhood.  


Vascular malformations are inborn errors of vascular embryogenesis present at birth that should be diagnosed in childhood and, when necessary, treated to prevent later complications. The current trend is to classify these lesions according to flow characteristics and the predominant type of vascular channel affected. Given the complexity, and in many cases, the rarity, of vascular malformations, they should be managed by multidisciplinary teams at vascular anomalies centers. Furthermore, because the association between vascular malformations and certain syndromes is becoming increasingly recognized, a better understanding of these lesions will help to improve overall patient management in this setting. PMID:22483320

Del Pozo, J; Gómez-Tellado, M; López-Gutiérrez, J C



Freeman-Sheldon Syndrome (Whistling Face Syndrome) and Cranio-Vertebral Junction Malformation Producing Dysphagia and Weight Loss  

Microsoft Academic Search

The whistling face syndrome has been reported, with complications of the respiratory system and feeding problems due to microstomia, since 1938. Dysphagia, however, has not previously been reported as a complication of whistling face syndrome. We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures.

Hae-Ryong Song; John F. Sarwark; Sarah Sauntry; John Grant



p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.  


p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. The results differed for these three conditions. p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome. Apart from a frameshift mutation in exon 13, all other EEC mutations were missense, predominantly involving codons 204, 227, 279, 280, and 304. In contrast, p63 mutations were detected in only a small proportion (4/35) of patients with isolated SHFM. p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3' splice site for exon 5. The fourth SHFM mutation (R280H) in this series was also found in a patient with classical EEC syndrome, suggesting partial overlap between the EEC and SHFM mutational spectra. The original family with LMS (van Bokhoven et al. 1999) had no detectable p63 mutation, although it clearly localizes to the p63 locus in 3q27. In two other small kindreds affected with LMS, frameshift mutations were detected in exons 13 and 14, respectively. The combined data show that p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS. PMID:11462173

van Bokhoven, H; Hamel, B C; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, P H; Vanmolkot, K R; van Beusekom, E; van Beersum, S E; Celli, J; Merkx, G F; Tenconi, R; Fryns, J P; Verloes, A; Newbury-Ecob, R A; Raas-Rotschild, A; Majewski, F; Beemer, F A; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, J R; Neri, G; Brunner, H G



Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review  

Microsoft Academic Search

Background  Syndromic craniosynostoses (Saethre–Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single\\u000a gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that characterize\\u000a these syndromes. Significant brain abnormalities have been reported in all syndromes. However, whether these abnormalities\\u000a are secondary to the bone disease or primary (e.g. callosal agenesis) is still

Charles Raybaud; Concezio Di Rocco



The Prune Belly Syndrome in a Female Foetus with Urorectal Septum Malformation Sequence: A Case Report on a Rare Entity with an Unusual Association  

PubMed Central

The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females in the absence of cryptorchidism. On the other hand, the urorectal septum malformation sequence is a lethal congenital malformation which is characterized by the development of a phallus like structure, a smooth perineum and the absence of urethral, vaginal and anal openings. We are reporting a case of a female foetus with the prune belly syndrome, which was associated with a urorectal septum malformation sequence. A dead foetus with a protruded abdomen and ambiguous genitalia, was born at 32 weeks of pregnancy. On autopsy, it was found to have female internal genital organs. The left kidney, the urinary bladder and the rectum were absent. The sigmoid colon, the ureters and the fallopian tubes opened into a common cloacal sac. The histopathological examination of the ovary showed the presence of Leydig’s cells. The occurrence of the female counterpart of the prune belly syndrome is extremely rare and only few of such cases were found to be discussed in the details in the indexed English literature so far. Hence, we hope that this case report will contribute to the existing knowledge on the prune belly syndrome.

Goswami, Dibyajyoti; Kusre, Giriraj; Dutta, Hemonta Kumar; Sarma, Adity



The prune belly syndrome in a female foetus with urorectal septum malformation sequence: a case report on a rare entity with an unusual association.  


The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females in the absence of cryptorchidism. On the other hand, the urorectal septum malformation sequence is a lethal congenital malformation which is characterized by the development of a phallus like structure, a smooth perineum and the absence of urethral, vaginal and anal openings. We are reporting a case of a female foetus with the prune belly syndrome, which was associated with a urorectal septum malformation sequence. A dead foetus with a protruded abdomen and ambiguous genitalia, was born at 32 weeks of pregnancy. On autopsy, it was found to have female internal genital organs. The left kidney, the urinary bladder and the rectum were absent. The sigmoid colon, the ureters and the fallopian tubes opened into a common cloacal sac. The histopathological examination of the ovary showed the presence of Leydig's cells. The occurrence of the female counterpart of the prune belly syndrome is extremely rare and only few of such cases were found to be discussed in the details in the indexed English literature so far. Hence, we hope that this case report will contribute to the existing knowledge on the prune belly syndrome. PMID:24086893

Goswami, Dibyajyoti; Kusre, Giriraj; Dutta, Hemonta Kumar; Sarma, Adity



Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes  

SciTech Connect

We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. 20 refs., 4 figs., 1 tab.

Dincsoy, M.Y.; Salih, M.A.M.; Al-Jurayyan, N. [King Saud Univ, Riyadh (Saudi Arabia)] [and others



Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.  


We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well. PMID:8291549

Kennerknecht, I; Sorgo, W; Oberhoffer, R; Teller, W M; Mattfeldt, T; Negri, G; Vogel, W



Brain Malformations  


Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections or radiation during pregnancy interferes with brain development. Types of brain malformations include missing parts ...


Cervico-Facial Vascular Malformations  

Microsoft Academic Search

\\u000a Craniofacial vascular lesions are best categorized into hemangiomas (i.e., showing proliferation and potential involution) and vascular malformations (i.e., not showing such behavior) [1]. While hemangiomas and PHACE syndrome will briefly be dealt with at the end of this chapter, vascular malformations are\\u000a the main focus of this paper.

Jeyaledchumy Mahadevan; Hortensia Alvarez; Pierre Lasjaunias


Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.  


Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability. The brain is malformed, with severe vermian hypoplasia, fourth ventriculomegaly, and "molar tooth" appearance of the cerebral and superior cerebellar peduncles visible as consistent features on neuroimaging. Neuropathological studies, though few, suggest that several other brain and spinal cord structures, such as the dorsal cervicomedullary junction, may also be affected in at least some patients. Genetically, JS is heterogeneous, with mutations in 13 genes accounting for approximately 50% of patients. Here, we compare neuropathologic findings in five subjects with JS, including four with defined mutations in OFD1 (2 siblings), RPGRIP1L, or TCTN2. Characteristic findings in all JS genotypes included vermian hypoplasia, fragmented dentate and spinal trigeminal nuclei, hypoplastic pontine and inferior olivary nuclei, and nondecussation of corticospinal tracts. Other common findings, seen in multiple genotypes but not all subjects, were dorsal cervicomedullary heterotopia, nondecussation of superior cerebellar peduncles, enlarged arcuate nuclei, hypoplastic reticular formation, hypoplastic medial lemnisci, and dorsal spinal cord disorganization. Thus, while JS exhibits significant neuropathologic as well as genetic heterogeneity, no genotype-phenotype correlations are apparent as yet. Our findings suggest that primary cilia are important for neural patterning, progenitor proliferation, cell migration, and axon guidance in the developing human brain and spinal cord. PMID:22331178

Juric-Sekhar, Gordana; Adkins, Jonathan; Doherty, Dan; Hevner, Robert F



Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.  


Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is an X-linked dominant disorder, caused by heterozygous mutations in the OFD1 gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. We encountered a family with three affected male neonates having an 'unclassified' X-linked lethal congenital malformation syndrome. Exome sequencing of entire transcripts of the whole X chromosome has identified a novel splicing mutation (c.2388+1G > C) in intron 17 of OFD1, resulting in a premature stop codon at amino acid position 796. The affected males manifested severe multisystem complications in addition to the cardinal features of OFD1 and the carrier female showed only subtle features of OFD1. The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities). PMID:22548404

Tsurusaki, Y; Kosho, T; Hatasaki, K; Narumi, Y; Wakui, K; Fukushima, Y; Doi, H; Saitsu, H; Miyake, N; Matsumoto, N



Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?  


We report a child with multiple anomalies that was born to healthy nonconsanguineous parents after an unremarkable pregnancy. The female infant had bilateral cleft lip and palate, bilateral toe syndactyly (second and third with no bony fusion), multiple bilateral periorbital tumors, ectropion, lagophthalmos, strabismus and prominent eyes. High frontal hairline and everted lower lip were also noted. Soon after delivery, she was referred to the 'Cleft Clinic' where she underwent cleft lip and palate repair. Seven dermoid cysts were also removed from both periorbital areas. Follow-up documented moderate developmental retardation, hypothyroidism and hydronephrosis. Although some features of our patient overlap with those described in ectrodactyly, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and Blepharocheilodontic syndromes, our patient has a combination of features not previously reported. PMID:16760736

Fodor, Lucian; Baruch-Gershoni, Ruth; Ullmann, Yehuda



Chiari Malformation  


... signs and symptoms may not occur until late childhood or adulthood. The most common pediatric form, called ... I, signs and symptoms usually appear during late childhood or adulthood. Chiari malformation type II is usually ...


Chiari Malformation  


... Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. ... of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The ...


Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1.  


The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant mice. Many additional genes have been shown to cause DGS-like phenotypes in mice when mutated; these generally intersect in some manner with Tbx1, and therefore impact the same developmental processes in which Tbx1 itself is involved. In this study, using Tie2Cre, we show that endothelial-specific mutation of the gene encoding the VEGFA coreceptor neuropilin-1 (Nrp1) also replicates the most prominent terminal phenotypes that typify DGS. However, the developmental etiologies of these defects are fundamentally different from those caused by absence of TBX1. In Tie2Cre/Nrp1 mutants, initial pharyngeal organization is normal but subsequent pharyngeal organ growth is impaired, second heart field differentiation is normal but cardiac outflow tract cushion organization is distorted, neural crest cell migration is normal, and palatal mesenchyme proliferation is impaired with no change in apoptosis. Our results demonstrate that impairment of VEGF-dependent endothelial pathways leads to a spectrum of DiGeorge syndrome-type malformations, through processes that are distinguishable from those controlled by Tbx1. PMID:22396765

Zhou, Jingjing; Pashmforoush, Mohammad; Sucov, Henry M



Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis.  

PubMed Central

This review presents the cardiac and non-cardiac malformations in 60 cases with asplenia and polysplenia with special reference to distinguishing factors which may be helpful in the clinical recognition of these syndromes. The asplenia cases were predominantly male and presented with cyanosis. They frequently had transposition of the great arteries (72%) with pulmonary stenosis or atresia (88%) and total anomalous pulmonary venous drainage (72%). Deaths were caused by cardiac failure and anoxia in 57 per cent of cases. Most of the patients died in the first year of life (79%), but longer survival is possible in the asplenia syndrome. The polysplenia cases were predominantly female and survived longer. The characteristic clinical findings were the relatively more benign presenting signs and the leftward or superiorly orientated P wave axis on the electrocardiogram. Conotruncal abnormalities were less common and total anomalous pulmonary venous drainage did not occur. On angiography the inferior vena caval drainage via the azygos system was clearly identified and this was present in all cases at surgery. Our study indicated that the cardiac anomalies in polysplenia were less severe than they were in asplenia and therefore the prognosis in the former syndrome is likely to be more favourable. Three families had two affects sibs but no single genetic factor could be identified. The aetiology of these syndromes remains undetermined. Images

Rose, V; Izukawa, T; Moes, C A



Treatment of congenital malformations.  


The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith



Chiari Malformation  


... of the back of the head or the neck and contains brain matter. The covering of the brain or spinal ... fusion of segments of the bones in the neck, and extra folds in the brain. How common are Chiari malformations? In the past, ...


Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia  

PubMed Central

Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.



Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions  

PubMed Central

Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.



[Malformations of the esophagus: diagnosis and therapy].  


Esophageal malformations are rare and can occur sporadically or as a component of various syndromes. The variations and classifications are manifold. With the available modern operation techniques most malformations can be resolved with good results. However, esophageal malformations are often combined with further malformations which limit the prognosis. The separation of the trachea and esophagus after gastrulation is not yet completely researched. The results so far indicate that the localized expression of various homeodomain transcription factors is essential for normal development of the trachea and esophagus. PMID:23423505

Falkeis, C; Hager, T; Freund-Unsinn, K; Wohlschläger, J; Veits, L; Hager, J



Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations.  


The use of chromosomal segments with conserved homologous linkage groups found in different species provides one method of predicting the location of genes causing congenital malformations in man. For example, homology between man and mouse involves 241 homologous autosomal genes spread on 68 homologous chromosomal segments. In addition, the similarities of phenotypic expression of human congenital malformations and mouse mutations indicate the possible involvement of an homologous gene implicated during ontogeny of the two species. The identification of a single gene defect in the mouse and comparative mouse-human gene mapping provides therefore another approach for selecting candidate loci for inborn error of morphogenesis in man. Further molecular studies can then be performed to show that the loci are identical. The human Waardenburg syndrome and the splotch (Sp) mouse mutant represent the first example of the potential of this approach for the understanding of human congenital malformations at the molecular level. PMID:7858167

Delezoide, A L; Vekemans, M



Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation  

Microsoft Academic Search

Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had

M D King; J Dudgeon; J B Stephenson



Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.  


Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline HRAS mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two-thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with Costello syndrome. In this study, images reconstructed by multi-detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in Costello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly/intellectual disability syndromes. PMID:23751039

Takahashi, Masashi; Ohashi, Hirofumi



[Unusual presentation of rib malformation].  


Rib malformation and anatomical variations are not well known and are still often underdiagnosed. Usually, rib malformations are fortuitously discovered. We describe here the case of a girl, 4 years and 4 months old, who presented at the emergency unit for fever and an anterior tumefaction of the ribcage, without any other symptoms. She was eupneic with a normal pulmonary auscultation and viral tonsillitis with a negative streptococcus test. The thoracic tumefaction was parasternal, painless, and fixed and measured approximately 2.5 × 2cm. Ultrasound findings consisted of a duplicated and hypoechogenic hypertrophy of the sterno-costal cartilage of the 4th left rib. Magnetic resonance imaging (MRI) confirmed the diagnosis of chondral bifidity of the sterno-costal junction of the 4th left rib. Fever, due to the viral tonsillitis, disappeared after 4 days. Rib malformations are rare, often anterior, unilateral, and preferentially located on the 3rd or the 4th rib. The main malformative rib lesions are bifid ribs, rib spurs, and widened ribs. Very rarely, they can be associated with Gorlin-Goltz syndrome or with other malformations such as VATER complex. The main differential diagnoses of these rib malformations are traumatic, tumoral, and infectious etiologies. In case of tumoral diseases, the topography of the lesion focuses the etiologic diagnosis: whereas an anterior and cartilaginous lesion is always benign, a lateral or posterior lesion can be an Ewing sarcoma. Rib malformation investigation consists in meticulous questioning, a complete clinical examination looking for any associated anomaly, completed by basic imaging explorations such as plain thoracic radiography focused on the ribcage and ultrasound. Finally, complementary computerized tomography or preferably MRI, depending on the anatomic location of the lesion, confirms the final diagnosis, as presented in our case report, and removes any uncertainty. PMID:23037576

Cosson, M-A; Breton, S; Aprahamian, A; Grevent, D; Cheron, G



Results after Norwood procedure and subsequent cavopulmonary anastomoses for typical hypoplastic left heart syndrome and similar complex cardiovascular malformations  

Microsoft Academic Search

Objective: From October 1989 to June 1998, 60 patients have undergone the Norwood procedure (stage I) at our institution. The results of the staged surgical reconstruction and risk factors were analysed. Typical hypoplastic left heart syndrome (HLHS) and complex lesions with aortic hypoplasia were compared with each other. Patients: Typical HLHS: N=48, median age 15 days (5–190 days), median weight

Thomas Breymann; Günter Kirchner; Ute Blanz; Eric Cherlet; Hermann Knobl; Hans Meyer; Reiner Körfer; Wolf-Rüdiger Thies



A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.  


We evaluated an autopsy case with severe neonatal respiratory distress, hypoplasia of thymus, thyroid gland and cerebellum, and agenesis of the corpus callosum displaying striking phenotypic similarity to the CrebA knockout mouse. On the assumption that comparable genetic alterations must be present, we checked the whole genomic DNA sequence of cyclic adenosine monophosphate (cAMP) response element binding protein 1 (CREB1), the human counterpart of mouse CrebA, and found a missense c.347A>G mutation corresponding to p.D116G within the kinase-inducible domain (KID) of CREB1. When transcribed in vitro, while Ser-133 phosphorylation of KID was maintained upon forskolin treatment, mutated CREB1 protein failed to associate with the KIX domain of co-activator CREBBP/EP300, and thereby, interrupted cAMP-dependent protein kinase A signal transduction as the dominant-negative form. This is the first report of a sporadic CREB1-related multiple malformation syndrome that, in light of accumulated knowledge of phenotypic features in gene-targeted animals, clearly emphasizes the importance of cross-species translational research. PMID:22267179

Kitazawa, Sohei; Kondo, Takeshi; Mori, Kiyoshi; Yokoyama, Naoki; Matsuo, Masafumi; Kitazawa, Riko



Extensive Intramuscular Venous Malformation in the Lower Extremity  

PubMed Central

Typical venous malformations are easily diagnosed by skin color changes, focal edema or pain. Venous malformation in the skeletal muscles, however, has the potential to be missed because their involved sites are invisible and the disease is rare. In addition, the symptoms of intramuscular venous malformation overlaps with myofascial pain syndrome or muscle strain. Most venous malformation cases have reported a focal lesion involved in one or adjacent muscles. In contrast, we have experienced a case of intramuscular venous malformation that involved a large number of muscles in a lower extremity extensively.

Chul, Jung Ho; Park, Byung Kyu; Park, Myung Kyu



Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates  

PubMed Central

Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two individuals presenting with nonsyndromic CMI with or without syringomyelia. Initial findings across all 66 families showed minimal evidence for linkage due to suspected genetic heterogeneity. In order to improve power to localize susceptibility genes, stratified linkage analyses were performed using clinical criteria to differentiate families based on etiologic factors. Families were stratified on the presence or absence of clinical features associated with connective tissue disorders (CTDs) since CMI and CTDs frequently co-occur and it has been proposed that CMI patients with CTDs represent a distinct class of patients with a different underlying disease mechanism. Stratified linkage analyses resulted in a marked increase in evidence of linkage to multiple genomic regions consistent with reduced genetic heterogeneity. Of particular interest were two regions (Chr8, Max LOD?=?3.04; Chr12, Max LOD?=?2.09) identified within the subset of “CTD-negative” families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). Interestingly, roughly 3–5% of CMI patients are diagnosed with KFS. In order to investigate the possibility that CMI and KFS are allelic, GDF3 and GDF6 were sequenced leading to the identification of a previously known KFS missense mutation and potential regulatory variants in GDF6. This study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implicating several convincing biological candidates and further supporting the hypothesis that multiple, distinct mechanisms are responsible for CMI.

Markunas, Christina A.; Soldano, Karen; Dunlap, Kaitlyn; Cope, Heidi; Asiimwe, Edgar; Stajich, Jeffrey; Enterline, David; Grant, Gerald; Fuchs, Herbert



Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome  

PubMed Central

SUMMARY Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1del64-323) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was generated. However, in mutant Mks1del64-323 cells, Mks1 was not localized to the centriole, even though it maintained a punctate distribution. Resembling MKS patients, Mks1 mutants had craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning. These defects reflected disturbance of functions subserved by motile and non-motile cilia. In the kidney, glomerular and tubule cysts were observed along with short cilia, and cilia were reduced in number to a near-complete loss. Underlying the left-right patterning defects were fewer and shorter nodal cilia, and analysis with fluorescent beads showed no directional flow at the embryonic node. In the cochlea, the stereocilia were mal-patterned, with the kinocilia being abnormally positioned. Together, these defects suggested disruption of planar cell polarity, which is known to regulate node, kidney and cochlea development. In addition, we also showed that Shh signaling was disrupted. Thus, in the neural tube, the floor plate was not specified posteriorly even as expression of the Shh mediator Gli2 increased. By contrast, the Shh signaling domain was expanded in the anterior neural tube and anterior limb bud, consistent with reduced Gli3-repressor (Gli3R) function. The latter probably accounted for the preaxial digit duplication exhibited by the Mks1del64-323 mutants. Overall, these findings indicate that centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly. On the basis of these results, we hypothesize a role for the B9 domain in mother centriole targeting, a possibility that warrants further future investigations.

Cui, Cheng; Chatterjee, Bishwanath; Francis, Deanne; Yu, Qing; SanAgustin, Jovenal T.; Francis, Richard; Tansey, Terry; Henry, Charisse; Wang, Baolin; Lemley, Bethan; Pazour, Gregory J.; Lo, Cecilia W.



Ischio-spinal dysostosis: a previously unrecognised combination of malformations  

Microsoft Academic Search

Background. Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. Objective. To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and\\u000a spinal malformations. Materials and methods. The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38

Gen Nishimura; Mamori Kimizuka; Ryouji Shiro; Eiji Nii; Masaki Nishiyama; Toshio Kawano; Tetsui Kaku; Yuko Kawada



Associated malformations among infants with radial ray deficiency.  


Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted. PMID:24032294

Stoll, C; Dott, B; Alembik, Y; Roth, M-P



Genetics Home Reference: Townes-Brocks Syndrome  


... anomalies syndrome renal-ear-anal-radial syndrome (REAR) sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome Townes syndrome ... anus ; kidney ; malformation ; mutation ; obstruction ; prevalence ; protein ; renal ; sensorineural ; syndrome ; transcription You may find definitions for these ...


Multiple hamartomas associated with intracranial malformation.  


We examined a newborn infant with multiple hamartomas, including an epidermal nevus syndrome and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage hamartoma, and a lipodermoid of the conjunctiva. This child had a significant brain malformation, diagnosed by sonography and computerized tomography, consisting of a significant enlargement of the left hemisphere not associated with asymmetry of the skull or facial bones. We suggest a careful investigation of the intracranial structures by computerized tomography and/or ultrasonography in case of either extensive linear nevus sebaceous sequence and/or giant pigmented nevocellular nevus. PMID:3725699

Mimouni, F; Han, B K; Barnes, L; Ballard, J L; Dignan, P S; Kiessling, M A; Lucky, A W



Spinal arteriovenous malformation  

Microsoft Academic Search

An 11-year-old girl presented with acute onset of paraplegia with bowel and bladder incontinence. She had spinal tenderness\\u000a and a sensory level at mid thoracic region. MRI spine revealed an intradural extramedullary arterio-venous malformation with\\u000a hemorrhage into the intramedullary region. Hence a diagnosis of spinal arterio-venous malformation was entertained.

S. Balasubramanian; So. Shivbalan; Sandeep D. Jaipurkar



Intramedullary spinalcord cavernous malformations  

Microsoft Academic Search

Intramedullary spinal cord cavernous malformations are rare lesions and account for a small percentage of clinically evident cavernous malformations. However, the reported incidence rates likely underestimate their true rate of occurrence. The advent of magnetic resonance imaging has increased the diagnosis of these lesions as it has that of their intracranial counterparts. Our understanding of their natural history, however, is

Frank P. K. Hsu; Richard E. Clatterbuck; Louis J. Kim; Robert F. Spetzler



Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.  


We report on 12- and 14-year old sisters with a 46, XY chromosome constitution, normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis and malrotation of the colon in the elder sister, the internal organs were normal. Both were mentally retarded, of short stature, and had extremely retarded bone age. In addition, they had an almost identical pattern of minor anomalies: peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, "dysplastic" hips, partial clino-/syndactyly of toes. The occurrence of a basically similar set of malformations in two sisters and the first cousin consanguinity of the parents suggests autosomal recessive inheritance. The conserved region of the SRY gene ([high mobility group] HMG box) was sequenced in the elder sib and was normal. No consistent malformations are observed at present in agonadal patients. This supports the idea that several autosomal genes have the potential of influencing the sequence of events of sex determination. PMID:8849014

Kennerknecht, I; von Saurma, P; Brenner, R; Just, W; Barbi, G; Sorgo, W; Heinze, E; Wolf, A S; Schneider, V; Günther, K P



Diffuse malformations of cortical development.  


Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

Bahi-Buisson, Nadia; Guerrini, Renzo



Congenital Hepatic Vascular Malformations  

Microsoft Academic Search

\\u000a Congenital hepatic vascular malformations are rare entities that result in abnormal shunting of blood through the liver. Three\\u000a different types of shunting can occur: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal\\u000a vein) and portovenous (portal vein to hepatic vein). Malformations result from alterations in the formation of blood vessels\\u000a during fetal development and can occur as

Guadalupe Garcia-Tsao


Post-mortem examination of prenatally diagnosed fatal renal malformation  

Microsoft Academic Search

Objective:Renal malformations can be associated with genetic syndromes and chromosomal disorders. Fetal autopsy including histopathological examination of kidney is important to arrive at definite diagnosis. The objective was to assess importance of fetal autopsy and histopathology.Study Design:Retrospective analysis of cases with fetal renal malformations was done. All fetuses terminated were examined with whole body radiograph, external and internal examination and

N Kumari; M Pradhan; V H Shankar; N Krishnani; S R Phadke



Capillary-venous malformation in the lower limb.  


Regional capillary malformation of a lower extremity is associated with the overgrowth of bone or soft tissue in several disorders, most commonly Klippel-Trenaunay syndrome and Parkes Weber syndrome. We have observed a subset of patients with a capillary malformation of the leg, minor growth disturbance, and prominent veins. The objective of the current study is to describe a series of patients with regional capillary malformation of the lower extremity in association with phlebectasia. This is a retrospective series of 17 patients diagnosed with capillary-venous malformation of the lower extremity. We excluded patients with clinical or radiographic evidence of lymphatic or arteriovenous malformation. Age, presentation, associated features, radiographic findings, and management were documented. In most patients the capillary malformation covered a large area without sharply demarcated borders. Four patients had one or more discrete, well-defined capillary stains involving less than 5% of the total surface area of the affected lower limb. Prominent veins were most common in the popliteal fossa and on the knee and dorsal foot. Approximately two-thirds of patients had a leg length discrepancy, with the affected leg being longer (n = 6) or shorter (n = 4); in many the affected leg was also slightly larger (n = 8) or smaller (n = 4) in girth. Radiographic imaging showed dilatation of superficial (n = 16), muscular (n = 9), and deep veins (n = 6). We characterize a subset of patients with regional capillary-venous malformation of the lower extremity with prominent veins and minor hypotrophy/hypertrophy that differs from Klippel-Trenaunay syndrome (capillary-lymphatic-venous malformation) but belongs at the minor end of the spectrum of vascular disorders with overgrowth. PMID:23829172

Uihlein, Lily C; Liang, Marilyn G; Fishman, Steven J; Alomari, Ahmad I; Mulliken, John B



Interventional treatment of pulmonary arteriovenous malformations  

PubMed Central

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

Andersen, Poul Erik; Kjeldsen, Anette Dr?hse



Rare malformation of glans penis: arteriovenous malformation.  


Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children. PMID:23771468

Akin, Y; Sarac, M; Yucel, S


Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.  

PubMed Central

We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndrome could be an isolated entity or a final common pathway of response of these organs to a variety of developmental disturbances, which could also include splenic abnormalities. We propose an autosomal recessive pattern of inheritance for renal-hepatic-pancreatic dysplasia. Images

Torra, R; Alos, L; Ramos, J; Estivill, X



Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-Ruvalcaba Syndrome  

PubMed Central

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient’s left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.

Soysal, Y; Acun, T; Lourenco, CM; Marques, W; Yak?c?er, MC



Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome.  


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care. PMID:24052722

Soysal, Y; Acun, T; Lourenço, Cm; Marques, W; Yak?c?er, Mc



Reoperation for Chiari Malformations  

Microsoft Academic Search

Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of

David Sacco; R. Michael Scott



Familial cerebral cavernous malformation.  


Cavernous malformations (CMs) occur in approximately 0.5% of the general population and represent 5-10% of the central nervous system vascular malformations. The majority of CMs appear sporadically but genetically determined familial forms account for 10% to 15% of all cases. The aim of this study was to discuss the clinical, pathological and genetic aspects of familial cerebral cavernous malformations (CCMs). We report on five members of a family who underwent surgery due to CCMs. However, only two members were treated in our Department. The age of onset of symptoms in these cases (4 men and 1 women) ranged from 3 to 28 years. Three members of the family were asymptomatic but it turned out that they were obligatory gene carriers and in one of them the cavernous malformation was confirmed by neuroimaging study. The clinical symptoms of CCMs included seizure (three patients) and focal neurological deficit (two patients). Multiple CCMs were identified in two symptomatic patients (two lesions) and in one asymptomatic patient (three lesions). The lesions were located superficially (4), in the basal ganglia (1), in the brainstem (2) and in the cerebellar vermis (1). In two patients, the subsequent imaging studies showed a single de novo CCM formation. Only one patient with mutation of CCM2 gene was treated surgically. In patients with cavernous malformations the detailed clinical and family history of neurological events ought to be collected. This is particular important in patients with multiple changes or with de novo CCMs formation, identified in subsequent imaging studies. A well-documented family history can help to establish the final diagnosis and makes it possible to offer all members of the family proper neurological and genetic care. PMID:22773461

Dziedzic, Tomasz; Kunert, Przemys?aw; Matyja, Ewa; Ziora-Jakutowicz, Karolina; Sidoti, Antonella; Marchel, Andrzej



Congenital occipitoatlantoaxial malformations in the horse.  


From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed. PMID:565704

Mayhew, I G; Watson, A G; Heissan, J A



Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome  


... mature to carry out specific functions (differentiation), and cell movement. The role of the p120-RasGAP protein is ... about genetic testing , particularly the difference between clinical tests and research tests . To locate a healthcare provider, ...


An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia  

PubMed Central

IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are autosomal recessive chondrodysplasias and share clinical and radiological similarities, including shortening of the long bones and constriction of the thoracic cage. A murine Ift80 gene-trap line was used to investigate the role of Ift80 during development. The homozygote appears hypomorphic rather than a true null due to low level wild-type transcript production by alternative splicing around the gene-trap cassette. Hypomorphic levels of Ift80 result in embryonic lethality highlighting a key role for Ift80 in development. In rare cases, gene-trap homozygotes survive to postnatal stages and phenocopy both JATD and SRP type III by exhibiting growth retardation, shortening of the long bones, constriction of the ribcage and polydactyly. Mouse embryonic fibroblasts made from this line showed a significant reduction in hedgehog pathway activation in response to Hedgehog analog treatment. This defective signalling was not accompanied by the loss or malformation of cilia as seen in some knockout models of other IFT component genes. Phenotypes indicative of defects in cilia structure or function such as situs inversus, cystic renal disease and retinal degeneration were not observed in this line. These data suggest that there is an absolute requirement for Ift80 in hedgehog signalling, but low level expression permits ciliogenesis indicating separate but linked roles for this protein in formation and function.

Rix, Suzanne; Calmont, Amelie; Scambler, Peter J.; Beales, Philip L.



Contribution of Rare Copy Number Variants to Isolated Human Malformations  

PubMed Central

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.

Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.



Ebstein’s malformation  

Microsoft Academic Search

Opinion statement  Ebstein’s malformation of the tricuspid valve is a complex and heterogeneous disorder that has diverse hemodynamic and arrhythmic\\u000a manifestations. Hemodynamic dysfunction is due to valvar regurgitation and decreased pulmonary blood flow, varying in severity\\u000a from mild tricuspid insufficiency to severe dysplasia of the right ventricle without forward flow. Atrioventricular reentrant\\u000a tachycardia and atrial tachyarrhythmias are commonly associated with Ebstein’s

Adel K. Younoszai; Michael M. Brook; Norman H. Silverman



ArterioVenous Malformations  

Microsoft Academic Search

Intracranial arterio-venous malformations (AVM) are relatively uncommon, but increasingly recognized lesions that can cause\\u000a serious neurological symptoms or death. Although AVM can initially present with hemorrhages or seizures, an increasing number\\u000a is detected before symptomatic bleeding due to the recently developed imaging techniques. Over the last decades, the management\\u000a of AVM has been widely modified due to the availability of

Markus W. Gross; Rita Engenhart-Cabillic


Vein of Galen malformation  

Microsoft Academic Search

Since 1984, 43 patients with true vein of Galen ancurysmal malformations have been referred to us and managed according to our patient selection, technique, and follow-up guidelines. Thirty-four were embolized transarterially with bucrilate (isobutyl cyanoacrylate) or enbucrilate (N-butyl cyanoacrylate) embolization. No cutdown or hypotension during or after the embolization was used and no balloon catheter was employed. Forty-seven percent of

P. Lasjaunias; R. Garcia-Monaco; G. Rodesch; K. Ter Brugge; M. Zerah; M. Tardieu; D. Victor



Congenital malformations in perinatal autopsy: a two-year prospective study.  


Perinatal autopsy detects the cause of death and also finds the various types of congenital malformation involving one or more than one system. Congenital malformations are one of the leading causes of perinatal deaths and infant mortality. In the present study various visceral malformations were detected in perinatal autopsies and categorised them systemwise. The prospective study was conducted during the period of June 2007 to May 2009 consisting of 32 cases. Out of 32 perinatal deaths studied, 30 were stillborn and in 2 there were early neonatal deaths. In each case, an attempt was made to find out the congenital malformation in perinatal deaths and clinicopathological correlation was attempted after a detailed postmortem and histopathological study. Congenital malformations were seen in 10 cases which accounted for 31.2% of perinatal deaths. A total of 64 congenital malformations were observed in 10 cases. Malformations of the alimentary system (20.31%) were most common followed by genito-urinary system (18.75%), musculoskeletal system (17.18%) and central nervous system (9.37%). There were other 22 congenital anomalies. Two cases of harlequin icthyosis and one case each of Meckel Gruber syndrome, sirenomelia and twin reverse arterial perfusion syndrome were also seen. In many of the perinatal deaths, internal malformations were not suspected clinically. Thus, autopsy is an invaluable tool for detecting visceral malformations, adding to the clinical diagnosis and counselling the parents for subsequent pregnancy. PMID:24003564

Kalyani, R; Bindra, Mandeep S; Mahansetty, Hemalatha



Congenital malformations and genetic diseases in Iranian infants  

Microsoft Academic Search

Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, eleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with

D. D. Farhud; Gh.-R. Walizadeh; M. Sharif Kamali



The p63 gene in EEC and other syndromes  

Microsoft Academic Search

Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand\\/foot malformation. The pattern of heterozygous

H G Brunner; B C J Hamel; H van Bokhoven



Chiari II Malformation and Syringomyelia  

Microsoft Academic Search

The Chiari II malformation was described at the end of the nineteenth century (1891–1896) by Hans Chiari, a German pathologist,\\u000a as a congenital malformation in a post-mortem examination of a child who died from a constellation of malformations including\\u000a prolapse of the cerebellum, part of the brain stem and part of the hindbrain, involving the upper part of the cervical

Spyros Sgouros


[Goldenhar syndrome. Report of a new case].  


Authors present a patient with Goldenhar's syndrome, with severe cardiac, vascular and brain malformations. Goldenhar's syndrome is a condition characterized by epibulbar dermoids or lipodermoid , malformation auricular, and vertebral anomalies. Many other abnormalities have been described, but these signs are the most constant and give the syndrome its' identity. PMID:6732067

Pedraz García, C; Benito Zaballos, M F; García González, P; Carbajosa Herrero, T; Heras de Pedro, M; Santos Borbujo, J; Gil Sánchez, A; Salazar Villalobos, V



Uterine arteriovenous malformation.  


Uterine arteriovenous malformation (AVM) is a rare condition, with fewer than 100 cases reported in the literature. Despite it being rare, it is a potentially life-threatening condition. This case report describes a 33-year-old woman who presented with secondary post-partum hemorrhage. Transabdominal ultrasound (US) of the pelvis showed increased vascularity with multidirectional flow of the uterus and a prominent vessel, located on the left lateral wall. She also had retained product of conception, which complicated the diagnosis. A uterine artery angiogram confirmed an AVM in the fundal region with an early draining vein. Embolisation of the AVM was performed successfully. PMID:23983582

Hashim, Hilwati; Nawawi, Ouzreiah



Arteriovenous Malformation Management  

SciTech Connect

Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)



Uterine Arteriovenous Malformation  

PubMed Central

Uterine arteriovenous malformation (AVM) is a rare condition, with fewer than 100 cases reported in the literature. Despite it being rare, it is a potentially life-threatening condition. This case report describes a 33-year-old woman who presented with secondary post-partum hemorrhage. Transabdominal ultrasound (US) of the pelvis showed increased vascularity with multidirectional flow of the uterus and a prominent vessel, located on the left lateral wall. She also had retained product of conception, which complicated the diagnosis. A uterine artery angiogram confirmed an AVM in the fundal region with an early draining vein. Embolisation of the AVM was performed successfully.

Hashim, Hilwati; Nawawi, Ouzreiah



Uncommon cavernous malformation of the optic chiasm: a case report.  


Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans. PMID:22892383

Ning, Xianbin; Xu, Kan; Luo, Qi; Qu, Limei; Yu, Jinlu



Uncommon cavernous malformation of the optic chiasm: a case report  

PubMed Central

Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.



Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'  

PubMed Central

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

Arora, Vipul; Kim, Usha R; Khazei, Hadi M



Management of venous malformations.  


Venous malformations (VMs) frequently occur in the head and neck with a predilection for the parotid gland, submandibular triangle, buccal space, muscles of mastication, lips, and upper aerodigestive tract. They are composed of congenitally disrupted ectatic veins with inappropriate connections and tubular channels. Because VMs have poorly defined boundaries and a tendency to infiltrate normal tissue, they require calculated treatment decisions in the effort to preserve surrounding architecture. Sclerotherapy, surgical excision, neodymium:yttrium aluminum garnet laser therapy, or a combination of these modalities is employed in the management of VMs. Although many small VMs can be cured, the objective is often to control the disease with periodic therapy. Location, size, and proximity to vital structures dictate the type of therapy chosen. Vigilance with long-term follow up is important. This review outlines current diagnostic and therapeutic approaches to simple and extensive cervicofacial VMs. PMID:23188688

Richter, Gresham T; Braswell, Leah



Uterine arteriovenous malformation.  


Uterine arteriovenous malformation (AVM) is a little known condition of which, to date, very few cases have been described. It has a very diverse symptomatology, even though in most cases, it is diagnosed during a severe and acute haemorrhagic event. Its treatment can vary from expectant management to hysterectomy; however, current evidence suggests that the embolisation of uterine arteries is the most effective approach, especially if fertility is to be preserved. We present a case report classified as AVM, with additional images that show the appearance of this pathology in a short span of time. This case has a number of peculiarities: unusual persistence of human chorionic gonadotropin hormone (?-HCG), asymptomatic patient, quick establishment of the lesion and its duration with unchanging characteristics and finally its spontaneous resolution without further consequences. This entity shows an aetiopathogenesis, that is, not well established or described. We discuss its physiopathology and aetiopathogenesis. PMID:23396842

Sellers, Francisco; Palacios-Marqués, Ana; Moliner, Belen; Bernabeu, Rafael



De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation  

Microsoft Academic Search

Anorectal malformations (ARM) encompass a broad clinical spectrum which ranges from mild anal stenosis to severe anorectal anomalies such as complex cloacal malformations. The overall incidence of ARM is around 1 in every 2,500 live births. Although causative genes for a few syndromic forms have been identified, the molecular genetic background of most ARM remains unknown. The present report describes

E. Bartels; M. Draaken; B. Kazmierczak; S. Spranger; C. Schramm; F. Baudisch; M. M. Nöthen; E. Schmiedeke; M. Ludwig; H. Reutter



Controversies in Chiari I malformations  

PubMed Central

Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures.

Baisden, Jamie



Syndrome des brides amniotiques  

Microsoft Academic Search

Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in

B. Poeuf; P. Samson; G. Magalon



Neuroimaging of dandy-walker malformation: new concepts.  


Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects. Hydrocephalus plays an important role in the development of symptoms and neurological outcome in patients with DWM, and the aim of surgical treatment is usually the control of hydrocephalus and the posterior fossa cyst. Imaging modalities, especially magnetic resonance imaging, are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Persistent Blake's cyst is seen as a retrocerebellar fluid collection with cerebrospinal fluid signal intensity and a median line communication with the fourth ventricle, commonly associated with hydrocephalus. Mega cisterna magna presents as an extraaxial fluid collection posteroinferior to an intact cerebellum. Retrocerebellar arachnoid cysts frequently compress the cerebellar hemispheres and the fourth ventricle. Patients with DWM show an enlarged posterior fossa filled with a cystic structure that communicates freely with the fourth ventricle and hypoplastic vermis. Comprehension of hindbrain embryology is of utmost importance for understanding the cerebellar malformations, including DWM, and other related entities. PMID:24132069

Correa, Gustavo Gumz; Amaral, Lázaro Faria; Vedolin, Leonardo Modesti



Analysis and Classification of Cerebellar Malformations  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Because of improved visualization of posterior fossa struc- tures with MR imaging, cerebellar malformations are recognized with increasing frequency. Herein we attempt to describe and propose a rational classification of cerebellar malformations. METHODS: MR images obtained in 70 patients with cerebellar malformations were retro- spectively reviewed. The cerebellar malformations were initially divided into those with hyp- oplasia

Sandeep Patel; A. James Barkovich



Pathologie neurovasculaire malformative de l'enfant : malformations anévrismales de la veine de Galien (MAVG), malformations artérioveineuses piales (MAVP), malformations des sinus duraux (MSD)  

Microsoft Academic Search

The purpose of this article is to give an overview of the cerebral and spinal cord pediatric malformations; we particularly describe three of them: Vein of Galen arteriovenous Malformation, Pial Arteriovenous Malformation, and Dural Sinus Malformation. We report the experience of Bicêtre since 1981 to 2003, with 317 VGAM, 302 Pial AVM and 30 DSM. We describe natural history, clinical

A. Ozanne; H. Alvarez; T. Krings; P. Lasjaunias



Oculocerebrocutaneous Syndrome (Delleman Syndrome)  

Microsoft Academic Search

Oculocerebrocutaneous syndrome (OCCS) is a rare disease (OMIM # 164180) with only around 35 patients reported so far (Hunter 2008, Tambe et al. 2003) characterized by bilateral anophthalmia and orbital cysts, typical skin lesions consisting in skin appendages, focal dermal\\u000a hypoplasia\\/aplasia and punch-like defects, complex brain malformations (mostly of the Dandy-Walker type) associated to mental\\u000a retardation and seizures, and cleft

Ignacio Pascual-Castroviejo


Epidemiologic characteristics of kidney malformations  

Microsoft Academic Search

Infants with kidney agenesis or dysgenesis, infants with cystic kidneys, and infants with horse-shoe kidneys were studied, based on data from three large and population-based congenital malformation registers: a total of 2666 infants among 5.83 million births. There is a strong variability between programs of the rates of registered unilateral kidney malformations and these are strongly over-represented in dead infants

John Harris; Elisabeth Robert; Bengt Källén



Congenital malformations of human dermatoglyphs  

PubMed Central

A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7

David, T. J.



Neuroradiological diagnosis of Chiari malformations  

Microsoft Academic Search

Chiari malformations 1, 2, 3 represent different degrees of herniation of posterior fossa content into the cervical canal\\u000a (Chiari 1 and 2), or through an upper-cervical meningocele (Chiari 3), whereas Chiari 4 anomaly consists of hypoplasia of\\u000a the cerebellum. Chiari 1 malformation (CM1) is the commonest anomaly; it is probably related to a mesodermal defect that create\\u000a a congenitally small

Luisa Chiapparini; Veronica Saletti; Carlo Lazzaro Solero; Maria Grazia Bruzzone; Laura Grazia Valentini


Noonan syndrome.  


Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D



[Unruptured brain arteriovenous malformations].  


Cerebral arteriovenous malformations (AVMs) often become symptomatic in young adults with a variety of neurological symptoms such as epileptic seizures, recurrent headaches, progressive neurological deficits or sudden intracranial hemorrhage. However, recent epidemiological data suggest a large number of AVMs are found without signs of hemorrhage and a relatively low rupture risk of less than 1% per year. Continuous technical progress has led to several specific treatment options for brain AVMs including endovascular embolization, microneurosurgery, and stereotactic radiotherapy, either alone or in any combination. Depending on AVM topography and vascular anatomy, interventional treatment strategies have shown successful occlusion rates ranging between 50 and 100% and a relatively low average procedural morbidity of 10% overall. For unruptured brain AVMs, however, the clinical benefit of invasive treatment remains as yet to be determined. To address this issue, A randomized trial of unruptured brain AVMs (ARUBA) is currently underway evaluating long-term outcome of best possible standard interventional therapy as compared to the natural history risk in a prospective multidisciplinary international study ( PMID:18786684

Stapf, C



Congenital malformations and genetic diseases in Iranian infants.  


Data of 13,037 live-born infants from a hospital in Tehran, Iran were analysed for congenital malformations and genetic diseases. The results showed that the rates of joint dislocation, cleft lip, cleft palate and finger anomalies are similar to those of the other populations. The rates of chromosomal, thorax and abdominal, external genital anomalies and other syndromes were higher compared with other populations, whereas the rates of multiple births and limb anomalies were lower. PMID:3793101

Farhud, D D; Walizadeh, G R; Kamali, M S



Popliteal Pterygium Syndrome: A Rare Entity  

PubMed Central

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.

Shaukat, Mahmood



A classification for congenital limb malformations.  


The classification for congenital limb malformations adopted by the American Society for Surgery of the Hand, the International Federation of Societies for Surgery of the Hand, and the International Society of Prosthetics and Orthotics is presented. This method groups similar patterns of deficiencies according to the parts that have been primarily affected by certain embryological failures, whether the insult involves a total part (skeletal and soft tissue) or only the dermomyofascial structures. The main categories of this classification are (I) failure of formation of parts. (II) failure of differentiation (separation) of parts, (III) duplication, (IV) overgrowth, (V) undergrowth, (VI) congenital constriction band syndrome, and (VII) generalized skeletal abnormalities. The rationale and method of use of the classification are discussed. This method has been tested and used in a variety of centers and has been found to be properly conceived and practical. PMID:1021591

Swanson, A B




PubMed Central

ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.

Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher



Compartmentalization of massive vascular malformations.  


A total of 18 patients with massive vascular malformations of the head and neck region were treated with compartmentalization using nonabsorbable sutures followed by injection of a sclerosant agent into each compartment. The indication for compartmentalization was either to stop potentially uncontrollable, life-threatening hemorrhage during the dissection of the lesion or to reduce its vascularity to allow a less dangerous subsequent resection. Compartmentalization was used in both high-flow and low-flow vascular malformations. In this technique, large nonabsorbable sutures are placed deeply in multiple areas within the lesion. The aim is to divide the malformation into multiple compartments by changing the direction of the suturing; in this way the sclerosing agent is provided with a more effective environment. The sclerosant used was either sodium tetradecyl sulfate 3%, absolute alcohol, or both. The total amount of infiltrate varied from 3 to 35 cc, according to the size of malformation. After compartmentalization, swelling was the most noticeable complication. With this technique, it was possible to treat what were considered untreatable malformations using standard techniques and to control the inevitable serious bleeding. PMID:15622226

Jackson, Ian T; Keskin, Mustafa; Yavuzer, Reha; Kelly, Christopher P



Arteriovenous malformations: ethanolamine oleate sclerotherapy.  


Peripheral vascular malformations are now described according to some accepted guidelines, and the principle of proper treatment (nodus ablation) is becoming clear. An appropriate classification schema for vascular anomalies and definite indications for treatment are important to successful treatment overall. Non-invasive imaging (US, CT, and MRI) in association with clinical findings is critical in establishing the diagnosis, evaluating the extent of the malformation, and planning appropriate treatment. Direct nidus phlebography is useful not only in making a correct diagnosis but also in treating the lesion by sclerotherapy. When a patient suffers clinical complications, the nidus sclerotherapy becomes mandatory. If the vascular malformation remains bloodstream to a drainage vein during nidus opacification, flow control is necessary to achieve complete nidus ablation. A multidisciplinary approach is needed in the treatment of a high-flow lesion. A dedicated team approach is necessary for appropriate management in most cases. PMID:17988037

Hyodoh, H; Hyodoh, K



Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature  

Microsoft Academic Search

We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality\\u000a characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset\\u000a growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition,\\u000a he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the\\u000a cerebral

Hiroshi Kawame; Yoko Sugio; Yuichi Fuyama; Yoshihiro Hayashi; Hideaki Suzuki; Kenji Kurosawa; Kihei Maekawa



Arteriovenous Malformation of the Pancreas  

PubMed Central

Pancreatic arteriovenous malformation (PAVM) is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

Charalabopoulos, Alexandros; Macheras, Nikolas; Krivan, Sylvia; Petropoulos, Konstantinos; Misiakos, Evangelos; Macheras, Anastasios



Glioblastoma Mimicking an Arteriovenous Malformation  

PubMed Central

Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3?years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately found to have an extensive glioblastoma associated with abnormal tumor vasculature. The case emphasizes the need for magnetic resonance imaging to investigate angiography-negative SAH in suspicious cases to rule out occult etiologies, such as neoplasm. We also discuss diagnostic pitfalls when brain tumors are associated with hemorrhage and abnormal vasculature.

Khanna, Arjun; Venteicher, Andrew S.; Walcott, Brian P.; Kahle, Kristopher T.; Mordes, Daniel A.; William, Christopher M.; Ghogawala, Zoher; Ogilvy, Christopher S.



Two families with isolated cat cry without the cri-du-chat syndrome phenotype have an inherited 5p15.3 deletion: Delineation of the larynx malformation region  

Microsoft Academic Search

The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). Patients present with a cat-like cry at birth that is usually considered diagnostic of this syndrome. Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on two families

M. Gersh; J. Overhauser; L. M. Pasztor



Genetics Home Reference: Costello syndrome  


... that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the ... division ; gene ; growth hormone ; hormone ; hypertrophic ; hypotonia ; malformation ; ... rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell ...


Genetics Home Reference: Pendred syndrome  


... loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. In other cases, hearing ... incidence ; ions ; ion transport ; malformation ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; syndrome ; thyroid ; vestibular aqueduct ; vestibular system You may ...


[Amniotic band syndrome].  


Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in the larger entity of limb body wall complex (LBWC). Congenital ring constriction, amniotic band disruption complex, or congenital transverse defect are some of the numerous synonyms defining this malformative syndrome, showing either its clinical variability, or the uncertainties surrounding its etiology. Indeed, several pathogenic theories have been successively opposed, bringing about a certain degree of confusion. Recent experimental genetic studies could unify the different fetal malformations. The surgical treatment actually applies only to the aftereffects of the intrauterine phenomenon, until antenatal diagnosis followed by in utero surgery will be perfected. PMID:18948051

Poeuf, B; Samson, P; Magalon, G



Cyclopism as a Hereditary Malformation  

Microsoft Academic Search

CYCLOPISM is a malformation which has been recognized for many years and which may have furnished the model for the Homeric monsters. It has been suggested that this developmental disorder is hereditary, but until recently there has been no proof of this.

Peter Pfitzer; Horst Müntefering



MRI of polysplenia syndrome.  


The polysplenia syndrome is the association of multiple spleens, situs inversus, congenital heart disease, and azygous continuation of the inferior vena cava. Magnetic resonance (MR) is a noninvasive imaging modality which can easily confirm the multiplicity of spleens, situs inversus, and identify complex congenital cardiovascular malformations. The anomalies of the polysplenia syndrome as imaged by MR are presented. PMID:2630850

Jelinek, J S; Stuart, P L; Done, S L; Ghaed, N; Rudd, S A


Goldenhar's syndrome: case report  

Microsoft Academic Search

Goldenhar's syndrome is a rare condition described initially in the early 1950's. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo- vertebral (OAV) dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The etiology of this rare disease is

Antônio Luiz; Barbosa PINHEIRO; Luciana Cavalcanti ARAÚJO; Suely Baptista OLIVEIRA; Maria Carmeli



Oesophageal atresia and Down syndrome  

Microsoft Academic Search

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our fi nding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher

Sebastiano Bianca; Marco Bianca; Giuseppe Ettore



Posterior fossa malformation associated with cerebral anomalies: genetic and imaging features.  


Many posterior fossa malformations are associated with other malformations particularly supratentorial ones, which tend to affect the prognosis of these patients. The role of the cerebellum in higher learning is just beginning to be understood, but it is obvious that cerebellar abnormalities may result in higher-cognition defects. Studies have demonstrated cerebellar abnormalities in patients with developmental encephalopathies, such as autism, mental retardation, and Rett syndrome. Disorders that affect cell life cycles and result in abnormal cell proliferation and abnormal cell migration disorders (hemimegalencephaly, dystroglicanopathy, lissencephaly, and gray matter heterotopia) can also be accompanied by posterior fossa malformations. In this article, we discuss hindbrain-midbrain malformations associated with developmental encephalopathies and with supratentorial brain abnormalities that result from abnormal cell proliferation and cell migration. PMID:24132068

Bertholdo, Débora; de Carvalho Neto, Arnolfo; Castillo, Mauricio



Ethmocephaly with Amniotic Band Syndrome  

PubMed Central

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature.

Das, Gobinda; Gayen, Sibnath; Bandyopadhyay, Sabyasachi; Das, Debabrata



Ethmocephaly with amniotic band syndrome.  


Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature. PMID:23248551

Das, Gobinda; Gayen, Sibnath; Bandyopadhyay, Sabyasachi; Das, Debabrata



Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome  

Microsoft Academic Search

The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick–Needles syndrome. The phenotype of these conditions in the male ranges from a severe perinatally lethal multiple malformation syndrome to a mild skeletal dysplasia. Most, but not all, instances of these conditions are associated by

Stephen P Robertson



Renal malformations associated with mutations of developmental genes: messages from the clinic  

PubMed Central

Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question “why was our child born with kidney disease”. Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies.

Adalat, Shazia; Bockenhauer, Detlef; Ledermann, Sarah E.; Hennekam, Raoul C.



The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.  

PubMed Central

A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome. Images

Thompson, E; Cadbury, R; Baraitser, M



The management of arteriovenous malformations.  


Arteriovenous malformations (AVM) can occur in the entire central nervous system with a predilection of the supratentorial intracranial compartment. Intracerebral hemorrhage is the most common clinical presentation of AVM and associated with a high morbidity and mortality rate. Correct management of these lesions is therefore of utmost importance. In this review, the authors present actual diagnostic and interdisciplinary treatment modalities based on their experience in a major neurovascular center and taking into consideration actual literature data. Different treatment strategies are discussed. PMID:21464810

Sandalcioglu, I E; Wanke, I; Zappala, V; Forsting, M; Sure, U



Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)  

Microsoft Academic Search

Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary

Alfredo Avellaneda Fernández; Alberto Isla Guerrero; Maravillas Izquierdo Martínez; María Eugenia Amado Vázquez; Javier Barrón Fernández; Ester Chesa i Octavio; Javier De la Cruz Labrado; Mercedes Escribano Silva; Marta Fernández de Gamboa Fernández de Araoz; Rocío García-Ramos; Miguel García Ribes; Carmen Gómez; Joaquín Insausti Valdivia; Ramón Navarro Valbuena; José R Ramón



The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.  

ERIC Educational Resources Information Center

The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

Mittler, Joel E.



The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study  

Microsoft Academic Search

Occult visceral arterio-venous malformations (AVMs) may be a constant threat to patients suffering from hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome (M. ROW). HHT patients predominantly become symptomatic through chronic, recurrent epistaxis, a symptom that can alert physicians at an early stage of the disease. The purpose of this study was to investigate whether occult, visceral arterio-venous malformations

Benedikt J. Folz; Ana Cerra Wollstein; Heiko Alfke; Anja A. Dünne; Burkard M. Lippert; Konrad Görg; Hans-Joachim Wagner; Siegfried Bien; Jochen A. Werner



Surgical management of a high-flow arteriovenous malformation of the upper extremity producing severe hemodynamic impairment  

Microsoft Academic Search

Peripheral arteriovenous (AV) malformations may present with a plethora of clinical symptoms such as paradoxical emboli, severe hypertension, nerve palsies or pain syndromes. Hemodynamically compromising lesions of the limbs are rare and involve high-flow AV fistulae with marked arteriovenous shunting. A female patient with a high-flow arteriovenous malformation of the left upper-extremity is presented. Preoperative assessment by magnetic resonance imaging

E. Polykandriotis; C. Böhner; R. Hess; U. Kneser; H. Seyhan; B. Loos; A. Bach; J. Kopp; R. E. Horch



[Treatment of fronto-orbital malformations associated with craniostenosis].  


From 1977 to 1982, 13 children affected by craniostenosis involving the supraorbital ridge were treated by surgery and subsequently followed up. Six cases of plagiocephaly, one of brachycephaly, three of Apert's syndrome, and three cases of Crouzon's disease were operated on, employing in seven cases classical lineal craniectomies, an in six other, craniotomies with advancement and remodelling. The results obtained are discussed in terms of functional and cosmetic improvement, the therapeutic criterion being in terms corresponding with the gravity of the malformation and the age at which the surgical operation was carried out. PMID:6742632

Cañamares, F J; Costa, J M; Sarget, R



The incidence of congenital malformations in children with cancer.  


We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country. PMID:20112599

Mutafo?lu-Uysal, Kamer; Günes, Dilek; Tüfekçi, Ozlem; Kalelihan-Cankal, Aydan; Sarialio?lu, Faik; Olgun, Nur


Sonographic markers for early diagnosis of fetal malformations  

PubMed Central

Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.).

Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio



The Chiari II malformation: cause and impact  

Microsoft Academic Search

IntroductionIt is the Chiari II malformation and its effects that determine the quality of life of the individual born with spina bifida.DiscussionThe cause of this malformation has been a source of debate for many years. Understanding the cause enables strategies for the management of problems created by this malformation to be developed. An open neural tube defect allows fluid to

David G. McLone; Mark S. Dias



Radiological Evaluation of Myelomeningocele — Chiari II Malformation  

Microsoft Academic Search

Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a

Charles Raybaud; Elka Miller


Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?  

Microsoft Academic Search

As compared with 580 randomly chosen pregnant women without malformed offspring, 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n=54) interviewed, malformation cases (n=98)

Gun Torstensson Nimby; Louise Lundberg; Tomas Sveger; Thomas F McNeil



Midline Developmental Anomalies in Down Syndrome  

Microsoft Academic Search

Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and

Matthias Kieslich; Sigrun Fuchs; Stefan Vlaho; Ulrike Maisch; H. Boehles



Tertiary Lymphoid Organs in Lymphatic Malformations  

PubMed Central

Abstract Background Examine lymphatic malformation lymphoid aggregates for the expression of tertiary lymphoid organ markers. Determine how lymphoid aggregate density relates to lymphatic malformation clinical features. Methods and Results Retrospective cohort study. Tissue and clinical data were reviewed from 29 patients in the Vascular Anomaly Database who represented the spectrum of head and neck lymphatic malformations and had >5 years of follow-up. Archived formalin-fixed, paraffin-embedded lymphatic malformation tissue was immunohistochemically stained with antibodies for tertiary lymphoid organ markers, which included follicular and mature myeloid dendritic cells, high endothelial venules, segregated B and T-cells, lymphatic endothelial cells, and lymphoid homing chemokines (CXCL13, CCL21). Lymphoid aggregate density (count/mm2) was quantified by 2 independent, blinded reviewers. Lymphoid aggregate density and lymphatic malformation clinical features were characterized using analysis of variance. Larger lymphatic malformation tissue lymphoid aggregates stained consistently for tertiary lymphoid organ markers. In oral cavity and neck specimens from the same patients (n?=?9), there were more tertiary lymphoid organ in oral cavity than in neck specimens (p?=?0.0235). In lymphatic malformation neck tissue, de Serres stage 4 lymphatic malformations displayed the highest tertiary lymphoid organ density. No significant association was seen between tertiary lymphoid organ density and other clinical features. Conclusion This study demonstrates that some lymphoid aggregates within lymphatic malformations represent tertiary lymphoid organs. There was an association between tertiary lymphoid organ density and lymphatic malformation location. Further study is required to define the role of lymphoid neogenesis and tertiary lymphoid organ formation in lymphatic malformation pathogenesis.

Kirsh, Andrew L.; Cushing, Sharon L.; Chen, Eunice Y.; Schwartz, Stephen M.



Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?  


As compared with 580 randomly chosen pregnant women without malformed offspring. 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n = 54) interviewed, malformation cases (n = 98) reported having had significantly more strong stress before identification of the malformation, as well as a clear tendency toward less appropriate timing of the pregnancy. Women with malformed offspring represent a psychosocially vulnerable group and should receive special clinical and personal support. PMID:10404467

Nimby, G T; Lundberg, L; Sveger, T; McNeil, T F


Arteriovenous malformation of the spinal cord  

Microsoft Academic Search

We report a case of spinal arteriovenous malformation (AVM) in which detailed morphological examination of the intramedullary vascular lesion was carried out employing serial section studies. The relationship of the malformation to parenchymal lesions was evaluated. An abnormal vessel at the spinomedullary transition, whose lamina elastica was partially interrupted, was suggestive of a shunt vessel. The location of the intramedullary

Tsuyoshi Ishida; Shigeo Murayama; Kazuyoshi Yamaguchi; Yoshinori Urano; Makoto Iwata



A Framework for Detecting Malformed SMS Attack  

Microsoft Academic Search

Malformed messages in different protocols pose a serious threat because they are used to remotely launch malicious activity. Furthermore, they are capable of crashing servers and end points, sometimes with a single message. Recently, it was shown that a malformed SMS can crash a mobile phone or gain unfettered access to it. In spite of this, little research has been

M Zubair Rafique; Muhammad Khurram Khan; Khaled Alghathbar; Muddassar Farooq



Congenital malformations due to antiepileptic drugs  

Microsoft Academic Search

To identify the major risk factors for the increased incidence of congenital malformations in offspring of mothers being treated for epilepsy with antiepileptic drugs (AEDs) during pregnancy and, to determine the relative teratogenic risk of AEDs, we prospectively analyzed 983 offspring born in Japan, Italy, and Canada. The incidence of congenital malformations in offspring without drug exposure was 3.1%, versus

S Kaneko; D Battino; E Andermann; K Wada; R Kan; A Takeda; Y Nakane; Y Ogawa; G Avanzini; C Fumarola; T Granata; F Molteni; G Pardi; L Minotti; R Canger; L Dansky; M Oguni; I Lopes-Cendas; A Sherwin; F Andermann; M.-H Seni; M Okada; T Teranishi



Early presentation of an extremity arteriovenous malformation  

Microsoft Academic Search

We report a very rare case of a high flow arteriovenous malformation (AVM) of the upper limb that caused high output cardiac failure at birth. There was early transfer of the baby to the care of a multidisciplinary team. After radiological intervention, the arm distal to the malformation became ischaemic and an urgent amputation through the upper-humerus followed. Methods of

Jill B. Webb; Mary O'Brien; Philip R. John; Hiroshi Nishikawa



Imaging of head and neck venous malformations  

Microsoft Academic Search

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated

Christine M. Flis; Stephen E. Connor



Maternal Age and Malformations in Singleton Births  

Microsoft Academic Search

Objective: To examine the effect of maternal age on inci- dence of nonchromosomal fetal malformations. Methods: Malformations detected at birth or in the new- born nursery were catalogued prospectively for 102,728 pregnancies, including abortions, stillbirths, and live births, from January 1, 1988 to December 31, 1994. Maternal age was divided into seven epochs. Relative risks (RRs) were used to compare




Maternal age and malformations in singleton births  

Microsoft Academic Search

Objective: To examine the effect of maternal age on incidence of nonchromosomal fetal malformations.Methods: Malformations detected at birth or in the newborn nursery were catalogued prospectively for 102,728 pregnancies, including abortions, stillbirths, and live births, from January 1, 1988 to December 31, 1994. Maternal age was divided into seven epochs. Relative risks (RRs) were used to compare demographic variables and

Lisa M Hollier; Kenneth J Leveno; Mary Ann Kelly; Donald D MCIntire; F. Gary Cunningham



Identification of brain malformations: neuropathological approach  

Microsoft Academic Search

IntroductionThe sophistication of prenatal brain imaging (US, MRI) has awakened interest in fetal neuropathology and changed the concept of brain malformations, defined until recently through descriptive terms and considered as senseless accidents of development. Usually, most CNS malformations are documented from a clinical and radiological point of view. However, only a detailed neuropathological study permits their exact phenotype to be

Férechté Encha-Razavi



Clinical, genetic and environmental factors associated with congenital vertebral malformations.  


Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

Giampietro, P F; Raggio, C L; Blank, R D; McCarty, C; Broeckel, U; Pickart, M A



North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.

Center., Northern P.



A case of Lenz microphthalmia syndrome  

Microsoft Academic Search

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles.

F F Ozkinay; C Ozkinay; H Yüksel; A Yenigun; G Sapmaz; O Aksu



Syndrome of arachnomelia in Simmental cattle  

Microsoft Academic Search

BACKGROUND: The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia

Johannes Buitkamp; Bernhard Luntz; Reiner Emmerling; Horst-Dieter Reichenbach; Myriam Weppert; Benjamin Schade; Norbert Meier; Kay-Uwe Götz



Autosomal dominant sacral agenesis: Currarino syndrome  

PubMed Central

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.???Keywords: sacral agenesis; presacral mass; anorectal malformation; Currarino triad

Lynch, S. A.; Wang, Y.; Strachan, T; Burn, J.; Lindsay, S.



Associations between congenital malformations and childhood cancer. A register-based case-control study.  

PubMed Central

This report describes a population-based case-control study that aimed to assess and quantify the risk of children with congenital malformations developing cancer. Three sources of data were used: the Victorian Cancer Register, the Victorian Perinatal Data Register (VPDR) and the Victorian Congenital Malformations/Birth Defects Register. Cases included all Victorian children born between 1984 and 1993 who developed cancer. Four controls per case, matched on birth date, were randomly selected from the VPDR. Record linkage between registers provided malformation data. A matched case-control analysis was undertaken. Of the 632 cancer cases, 570 (90.2%) were linked to the VPDR. The congenital malformation prevalence in children with cancer was 9.6% compared with 2.5% in the controls [odds ratio (OR) 4.5, 95% CI 3.1-6.7]. A strong association was found with chromosomal defects (OR=16.7, 95% CI 6.1-45.3), in particular Down's syndrome (OR=27.1, 95% CI 6.0-122). Most other birth defect groups were also associated with increased cancer risk. The increased risk of leukaemia in children with Down's syndrome was confirmed, and children with central nervous system (CNS) defects were found to be at increased risk of CNS tumours. The report confirms that children with congenital malformations have increased risks of various malignancies. These findings may provide clues to the underlying aetiology of childhood cancer, as congenital malformations are felt to be a marker of exposures or processes which may increase cancer risk. The usefulness of record linkage between accurate population-based registers in the epidemiological study of disease has also been reinforced.

Altmann, A. E.; Halliday, J. L.; Giles, G. G.



Interventional occlusion of congenital vascular malformations  

Microsoft Academic Search

Background  New materials and devices have been used in the management of cardiac malformations. In this paper, we present our experience\\u000a with interventional occlusion of congenital vascular malformations.\\u000a \\u000a \\u000a \\u000a Methods  Between January 1997 and December 2005, 139 patients with congenital vascular malformations who had undergone interventional\\u000a occlusion in the Children’s Hospital, Zhejiang University School of Medicine were studied. The clinical data of the

Chun-Hong Xie; Cheng-Sen Xia; Fang-Qi Gong; Yin-Bao Zhou; Wei-Hua Zhu



Fetal MRI clues to diagnose cloacal malformations  

Microsoft Academic Search

Background  Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis.\\u000a \\u000a \\u000a \\u000a Objective  To define the prenatal MRI findings in cloacal malformations.\\u000a \\u000a \\u000a \\u000a Materials and methods  We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution.\\u000a Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was

Maria A. Calvo-Garcia; Beth M. Kline-Fath; Marc A. Levitt; Foong-Yen Lim; Leann E. Linam; Manish N. Patel; Steven Kraus; Timothy M. Crombleholme; Alberto Peña


Microdeletion 3q syndrome.  


The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

Ramieri, Valerio; Tarani, Luigi; Costantino, Francesco; Basile, Emanuela; Liberati, Natascia; Rinna, Claudio; Cascone, Piero; Colloridi, Fiorenza



Huge arteriovenous malformation in masseter muscle.  


Arteriovenous malformation is a tumor characterized by direct connection between an artery and vein without capillaries in-between, and it is commonly located intracranially. Intramuscular arteriovenous malformations are rare in the head and neck region. Less than 1% of the vascular tumors are localized in a muscle, 15% of them are in the head and neck muscles. Among the head and neck muscles, masseter muscle is the most common location, with the rate of 4.9%. The condition of a 36-year-old patient who applied to our clinic with the complaints of progressively increasing pain and progressively growing mass in the right cheek that appeared 1.5 years ago was diagnosed as arteriovenous malformation located in the masseter muscle. After preoperative embolization, the mass was successfully treated with total excision. In this case report, diagnostic and therapeutic tools addressing arteriovenous malformation located in the masseter muscle are discussed in the light of current literature. PMID:19625853

Karaman, Emin; Mercan, Hasan; Ozdilek, Alper; Alimoglu, Yalcin; Korkut, Nazim



Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.  


Genosensor Array 300 (Abbott) is a multiplex platform for array-based comparative genomic hybridization that detects unbalanced genomic aberrations including whole chromosome gains/losses, microdeletions, duplications and unbalanced subtelomeric rearrangements. A series of 30 patients with unexplained mental retardation, dysmorphic features, congenital abnormalities and normal high resolution karyotype and FISH subtelomeric studies were analyzed using Genosensor Array 300 array-CGH. We identified a chromosomal aberration in one patient with an interstitial 1p31.1 deletion. FISH analysis with BACs specific probes of the 1p region confirmed the interstitial 1p22.2-p31.1 deletion. The patient was a 20-year-old man with short stature, facial dysmorphism including asymmetry, scoliosis, severe psychomotor delay and an epibulbar dermoid cyst. The phenotype was compatible with Goldenhar syndrome despite the absence of asymmetric ears. This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array-CGH technology in detecting interstitial deletions. PMID:18629884

Callier, P; Faivre, L; Thauvin-Robinet, C; Marle, N; Mosca, A L; D'Athis, P; Guy, J; Masurel-Paulet, A; Joly, L; Guiraud, S; Teyssier, J R; Huet, F; Mugneret, F



Chiari malformation with thick occipital bone.  


A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression. PMID:21339798

Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao



Imaging diagnosis--split cord malformation.  


The features of a calf with a split cord malformation are described. Clinically, there was severe cervicothoracic kyphoscoliosis and an interscapular dermal sinus associated with cerebrospinal fluid drainage. Using magnetic resonance imaging, complete duplication of the spinal cord at the cervical intumescence was detected. There was associated syringohydromyelia, multiple cervicothoracic vertebral malformations resulting in kyphoscoliosis and rachischisis, herniation of the cerebellar vermis, meningoencephalocele, and calvarial defects. PMID:20166395

Zani, Davide D; De Zani, Donatella; Morandi, Nicola; Biggi, Marianna; Belloli, Angelo G; Riccaboni, Pietro; Rondena, Marco; Di Giancamillo, Mauro; Pravettoni, Davide


Maternal diabetes mellitus and infant malformations  

Microsoft Academic Search

OBJECTIVE:To investigate the effects of pregestational, as opposed to gestational, diabetes on infant malformations.METHODS:All women delivering infants at Parkland Hospital between January 1, 1991, and December 31, 2000, were ascertained. Screening for gestational diabetes was methodically employed throughout the study period using National Diabetes Data Group criteria for diagnosis of pregestational and gestational diabetes. Standardized definitions of major infant malformations

Jeanne S Sheffield; Erin L Butler-Koster; Brian M Casey; Donald D McIntire; Kenneth J Leveno



[Type II split cord malformation of late clinical onset].  


A 68-year-old patient suffered for 8 years from radicular S1 pain on the left side, which was aggravated by walking. After an increased effort, he experienced a violent dorsal pain and sensitive troubles in the left T1 and T2 territories. Low back pain and painful paresthesiae of right leg came on next. Physical examination revealed proprioceptive symptoms on the left, a left pyramidal syndrome and a sacral pilonidal sinus. MRI showed on level of L2 vertebra, a spinal cord duplication in a unique dural tube, corresponding to diplomyelia or split cord malformation (SCM) type II. The patient had low conus medullaris anchored on L3-L4 level. A syringomyelia surmounted this medullar dysraphia. Split cord malformations, SCM type I (diplomyelia) or SCM type II (diastematomyelia), are usually revealed in infancy or early childhood. They are very rarely discovered late in the life. With progress in noninvasive spinal cord imaging, such diagnoses will undoubtedly be made more often in adults. PMID:14978399

Goina, L S; Verstichel, P; Roualdès, B; El Amrani, M; Meyrignac, C



Surgical Management of Patients with Chiari I Malformation  

PubMed Central

Chiari malformations (CMs) constitute a variety of four mainly syndromes (I, II, III, and IV), which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients.

Siasios, John; Kapsalaki, Eftychia Z.; Fountas, Kostas N.



Does Down syndrome affect the outcome of congenital duodenal obstruction?  

Microsoft Academic Search

Congenital duodenal obstruction (DO) has a well-known association with Down syndrome (DS) and other congenital malformations. Previously reported series on DO have not examined the influence of DS on associated congenital malformations and postoperative morbidity and mortality. We report on a retrospective study of all children born with DO over an 11-year period to investigate this. A total of 79

M. V. A. Singh; C. Richards; J. C. Bowen



Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects  

Microsoft Academic Search

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical\\u000a spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3–4 years is observed\\u000a in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down’s syndrome. There is a high incidence of both anterior\\u000a and posterior spina bifida of the

Ali Al Kaissi; Farid Ben Chehida; Hassan Gharbi; Maher Ben Ghachem; Franz Grill; Franz Varga; Klaus Klaushofer



Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review.  


Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations can present sporadically or familial, as a consequence of an autosomal dominant condition, with incomplete penetrance and variable clinical expression. Occasionally, extraneural manifestations of CMs involving the skin have been described. We report the case of two siblings presenting in adulthood diffuse cutaneous vascular lesions associated with cerebral CMs that, after surgical excision and histopathologic analysis, resulted to cavernous haemangiomas. Genomic DNA was extracted from peripheral blood, and molecular evaluation of KRIT1 gene was performed. Although no signs of neurological impairment were reported, cerebral MRI revealed multiple images in both patients, suggestive of cavernous haemangiomas. The genetic study demonstrated a nonsense mutation (c.535C>T) in the KRIT1 (Krev-1/rap1 interaction trapped 1) gene. Few reports describe extraneural manifestations of Cavernous malformation syndrome (CMs) related to a KRIT1 mutation; these involve the skin and are associated with hyperkeratotic cutaneous capillary-venous malformation. CMs should be suspected in patients developing multiple nodular cutaneous venous lesions in adulthood. PMID:23828392

Grippaudo, Francesca Romana; Piane, Maria; Amoroso, Matteo; Longo, Benedetto; Penco, Silvana; Chessa, Luciana; Giubettini, Maria; Santanelli, Fabio



Hamartomatous polyposis syndromes  

PubMed Central

Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation.



Cardiac and non-cardiac malformations produced by Mercury in hamsters. [None  

SciTech Connect

The susceptibility of the developing mammalian embryo to the adverse effects of mercury is well documented. A variety of organic mercury compounds have been demonstrated to produce embryotoxic effects in experimental animals. HARADA recently summarized the reports of human intrauterine methylmercury poisoning, i.e., congenital Minamata disease, resulting from the ingestion of contaminated food. Ongoing studies in this laboratory have involved several different aspects of the embryotoxicity produced by inorganic mercury in hamsters including a dose response study, the interaction of mercuric acetate with cadmium and zinc, the effect of different routes of administration, the placental permeability of /sup 203/Hg and the embryotoxic response in several different hamster strains. Little is known regarding a human syndrome of congenital malformations characterized by ectopia cordis, internal cardiac defects and abnormalities of the diaphragm and ventral body wall. Most papers regarding this human syndrome are clinical reports describing the characteristics and management of specific cases; only speculative information is provided regarding etiology and possible embryopathic mechanisms. The observation that a similar syndrome, which will be designated CNC for cardiac and non-cardiac malformations, can be produced by mercury in hamsters prompted the present study. The specific goals of this study were 1) to study the effect of treating pregnant hamsters at different times during embryonic organogenesis to determine the time which produces the highest incidence of the CNC syndrome and whether different treatment times modify the morphological characteristics of the inclusive malformations and 2) to study the structural features of all mercury-induced external and internal abnormalities of the CNC syndrome in late gestation fetuses.

Gale, T.F.



Massive localised lymphoedema: a rare vascular malformation.  


Lymphatic malformations are a subset of congenital vascular malformations, and are caused by a defect in lymphatic development during embryogenesis. When lymphatic mesoderm development is prematurely arrested, it retains it proliferative potential. Stimulus in the future can cause the lesion to proliferate locally without coordination or regulation, resulting in the rare condition known as massive localised lymphoedema (MLL). We present a case report of MLL, a rare and ill-defined soft tissue mass reported in the morbidly obese, with reference to the existing literature. PMID:23761611

Williams, K J; Al-Sakkal, M N; Alsafi, A; Davies, A H



Venous malformations of the genitals: a therapeutic dilemma.  


Venous malformations may occur anywhere in the body but are rare in the genitourinary tract and external genitalia. The authors report a case of a venous malformation in the glans penis and discuss the controversy over optimal management. PMID:20442077

Kaufman, Daniel; Feber, Kevin M; Palmer, Lane S; Freedman, Alan M



Diffusion tensor imaging of midline posterior fossa malformations  

Microsoft Academic Search

Background  Diffusion tensor imaging and tractography have been used to evaluate a variety of brain malformations. However, these studies have focused mainly on malformations involving the supratentorial compartments. There is a paucity of data on diffusion tensor imaging of posterior fossa malformations.Objective  To describe the color vector maps and modified or abnormal tracts of midline posterior fossa malformations.Materials and Methods  Diffusion tensor imaging

Elysa Widjaja; Susan Blaser; Charles Raybaud



Hypertension as a presentation of bilateral intrarenal arateriovenous malformation.  


Congenital arteriovenous malformations are rare lesions of the kidneys. The first case of bilateral renal arteriovenous malformations was described in 1987. A case of extensive bilateral intrarenal arterivenous malformations presented to us as a case of hypertension. Renal angiography confirmed the diagnosis. Magnetic resonance angiography ruled out these malformations in cerebral circulation, and enhanced abdominal CT scan was normal. The blood pressure of the patient was controlled by medical therapy only. PMID:18212459

El-Lozi, M S; Hadad, A F


Congenital malformations by the parental occupation in finland  

Microsoft Academic Search

The Finnish Register of Congenital Malformations, a case-referent register, was used to analyze the associations between the parental occupation and the children born with malformations. The women working in industrial and construction occupations had more children with central nervous system (CNS) and musculoskeletal malformations than the referent mothers. The women employed in transport and communication occupations had more children with

K. Hemminki; P. Mutanen; K. Luoma; I. Saloniemi



Cardiovascular malformations in experimental congenital diaphragmatic hernia  

Microsoft Academic Search

Background\\/Purpose: Newborns with congenital diaphragmatic hernia (CDH) frequently have associated anomalies that have a major impact on survival rate independent of pulmonary hypoplasia and pulmonary hypertension. Cardiovascular malformations (CVM) represent a major group of lethal extrapulmonary abnormalities that often assume greatest prognostic significance in most CDH studies. Animal models resembling human CDH may aid knowledge of the basic embryology that

Paul D Losty; M. Gwen Connell; Ralf Freese; Stefan Laval; Bruce O Okoye; Audrey Smith; Dietrich Kluth; David A Lloyd



Chiari malformation in female monozygotic twins.  


We describe the cases of female monozygotic twins who presented almost synchronously with symptomatic Chiari malformation type I. Both were successfully treated with foramen magnum decompression. We analyse these findings in the context of previously reported cases and discuss the genetic implications. PMID:20649405

Solth, A; Barrett, C; Holliman, D; Mitchell, P



Anatomical progression of the Chiari II malformation  

Microsoft Academic Search

To evaluate whether anatomic change of the relationship of the Chiari II malformation and the cranial base was occurring, 22 children with meningomyelocele had serial MRI scans reviewed. A ratio (B\\/A) was established between the distance from the foramen magnum to the caudalmost portion of herniated cerebellum (B) and the diameter of the foramen magnum (A) and this ratio was

John R. Ruge; Jeff Masciopinto; Bruce B. Storrs; David G. McLone



Angular craniometry in craniocervical junction malformation.  


The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles. PMID:23640096

Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi



Familial Dandy-Walker malformation and leukodystrophy  

Microsoft Academic Search

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.

Véronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne



Unilateral regional odontodysplasia with ipsilateral mandibular malformation.  


Regional odontodysplasia is a rare developmental anomaly with an unknown cause. This disorder involves both the ectodermal and mesodermal dental layers. The affected teeth generally cannot be rehabilitated for functional use; therefore, the treatment of choice is extraction with prosthetic replacement. A unique case of unilateral regional odontodysplasia with ipsilateral mandibular malformation is reported. PMID:2356083

Raez, A G



Obstetric complications and congenital malformation in schizophrenia  

Microsoft Academic Search

Recent years have witnessed increasingly intense research activity concerning early life somatic trauma and dysmorphogenesis which are associated with the later development of schizophrenia. The two somatic factors that have received the most extensive scientific attention as antecedents of schizophrenia are obstetric complications (OCs) and the congenital malformations termed `minor physical anomalies' (MPAs). Head circumference (HC) at birth has also

Thomas F McNeil; Elizabeth Cantor-Graae; Baher Ismail



Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations  

Microsoft Academic Search

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among\\u000a Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North\\u000a of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded\\u000a in a pre-designed questionnaire for analysis;

Mohammad Jafar Golalipour; Elham Mobasheri; Kaniz-Reza Hoseinpour; Abbas Ali Keshtkar



Epilepsy and genetic malformations of the cerebral cortex.  


Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in females and prenatal lethality in males. About 88% of patients have partial epilepsy. Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients. The most frequent forms of lissencephaly (agyria-pachygyria) are caused by mutations of LIS1. XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. The thickness of the heterotopic band and the degree of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS were found in all reported pedigrees and in 38-91% of sporadic female patients with SBH. With few exceptions, children with LIS1 mutations have isolated lissencephaly, with severe developmental delay and infantile spasms. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene. Fukuyama congenital muscular dystrophy is due to mutations of the fukutin gene and is accompanied by polymicrogyria. Febrile seizures and epilepsy with generalized tonic-convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. PMID:11579436

Guerrini, R; Carrozzo, R



HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina.  


Congenital genital malformations occurring in the female population are estimated to be 5 per 1000 and associate with infertility, abortion, stillbirth, preterm delivery and other organ abnormalities. Complete aplasia of the uterus, cervix and upper vagina (Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome) has an incidence of 1 per 4000 female live births. The molecular etiology of congenital genital malformations including MRKH is unknown up to date. The homeobox (HOX) genes HOXA10 and HOXA13 are involved in the development of human genitalia. In this investigation, HOXA10 and HOXA13 genes of 20 patients with the MRKH syndrome, 7 non-MRKH patients with genital malformations and 53 control women were sequenced to assess for DNA variations. A total of 14 DNA sequence variations (10 novel and 4 known) within exonic and untranslated regions were detected in HOXA10 and HOXA13 among our cohorts. Four HOXA10 and two HOXA13 DNA sequence variations were found solely in patients with genital malformations. In addition to mutations resulting in synonymous amino acid substitutions, in the HOXA10 gene a missense mutation was identified and predicted by computer analysis as probably damaging to protein function in two non-MRKH patients, one with a bicornate and the other patient with a septated uterus. A novel exonic HOXA10 cytosine deletion was also identified in a non-MRKH patient with a septate uterus and renal malformations resulting in a premature stop codon and loss of the homeodomain helix 3/4. This cytosine deletion and the missense mutation in HOXA10 were analysed by real time PCR and sequencing, respectively, in two additional larger cohorts of 103 patients with MRKH and 109 non-MRKH patients with genital malformations. No other patients were found with the cytosine deletion however one additional patient was identified regarding the missense mutation. Rare DNA sequence variations in the HOXA10 gene could contribute to the misdevelopment of female internal genitalia. PMID:23376215

Ekici, Arif B; Strissel, Pamela L; Oppelt, Patricia G; Renner, Stefan P; Brucker, Sara; Beckmann, Matthias W; Strick, Reiner



Möbius Syndrome with Poland's Anomaly  

Microsoft Academic Search

A five-year-old boy with Möbius syndrome, Poland's anomaly, and dextrocardia is described. These malformations have not been previously reported. The propositus had ipsilateral absence of the sternal portion of the pectoralis major muscle associated with acromicria, syndactyly, brachydactyly of the index, middle, ring, and fifth finger, as well as radiological evidence of hypoplasia of the index middle and ring fingers,

Gerald I. Sugarman; Herbert H. Stark



Fetal alcohol syndrome: Behavioral teratology  

Microsoft Academic Search

The fetal alcohol syndrome (FAS) is a pattern of physical malformations observed in the offspring of women who drink alcohol during pregnancy. The most serious effect of in utero exposure to alcohol is mental retardation. Although the physical characteristics associated with the FAS have been attributed to the direct effects of alcohol, conditions secondary to alcohol intake (e.g., altered nutrition)

Ernest L. Abel



Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development during infancy.  


We present 2 cases of malformations of cortical development and early onset epilepsy. The first case is of a patient with left hemimegalencephaly who developed focal epilepsy at the age of 2 days and cluster spasms at 1.5 months. After left functional hemispherectomy, seizures originated from the contralateral hemisphere, which had shown normal signals in the preoperative magnetic resonance imaging study. The second case is of a patient with lissencephaly, caused by a missense mutation in the doublecortin gene, who developed West syndrome at the age of 5 months. In both the cases, (123)I-iomazenil single photon emission computed tomography performed during infancy showed significant hyperfixation in the dysplastic lesions. This finding indicates the immaturity of the affected neurons and a gamma-aminobutyric acidergic involvement in epileptogenesis associated with malformations of cortical development during infancy. PMID:21501962

Higurashi, Norimichi; Hamano, Shin-ichiro; Oritsu, Tomotaka; Minamitani, Motoyuki; Sasaki, Masayuki; Ida, Hiroyuki



Aborting a Malformed Fetus: A Debatable Issue in Saudi Arabia  

PubMed Central

Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective.

Al-Alaiyan, Saleh; AlFaleh, Khalid M.



Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).  

PubMed Central

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely. Images

Mingarelli, R; Castriota Scanderbeg, A; Dallapiccola, B



Treacher Collins syndrome  

PubMed Central

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

Shete, Prachi; Tupkari, JV; Benjamin, Tabita; Singh, Aarti



Klippel-Trenaunay Syndrome  

Microsoft Academic Search

Klippel-Trenaunay syndrome is characterised by (a) combined vascular malformations of the capillary, venous, and lymphatic\\u000a types, (b) varicosities of unusual distribution, in particular a lateral venous anomaly observed during infancy or childhood,\\u000a and (c) limb enlargement with limb asymmetry (Berry et al. 1998; Cohen 2000, 2002, 2006; Cohen et al. 2002; Gorlin et al. 2001; Huang and Creath 1994).

Martino Ruggieri; Concezio Di Rocco; Orhan Konez


Microdeletion syndromes, balanced translocations, and gene mapping  

Microsoft Academic Search

High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11\\/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of

A Schinzel



Median Facial Cleft in Amniotic Band Syndrome  

PubMed Central

Amniotic band syndrome manifests at birth with a variety of malformations ranging from constriction ring to defects incompatible to life, in various parts of the body. Although some theories have been proposed for the development of this syndrome, the exact cause remains unknown. The median facial cleft is an extremely rare manifestation of amniotic band syndrome with a relative paucity of reports available in the literature. Here, we report one such case.

Das, Debabrata; Das, Gobinda; Gayen, Sibnath; Konar, Arpita



Median facial cleft in amniotic band syndrome.  


Amniotic band syndrome manifests at birth with a variety of malformations ranging from constriction ring to defects incompatible to life, in various parts of the body. Although some theories have been proposed for the development of this syndrome, the exact cause remains unknown. The median facial cleft is an extremely rare manifestation of amniotic band syndrome with a relative paucity of reports available in the literature. Here, we report one such case. PMID:21731335

Das, Debabrata; Das, Gobinda; Gayen, Sibnath; Konar, Arpita



GI-Associated Hemangiomas and Vascular Malformations  

PubMed Central

Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible.

Yoo, Stephen



A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome).  


Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure. PMID:20232658

Zahariev, Zahari Iv; Peycheva, Marieta V; Dobrev, Hristo P


Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.  


We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all licence-phalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS (or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk. PMID:12185771

Guerrini, Renzo; Carrozzo, Romeo



Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.  


We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk. PMID:11749114

Guerrini, R; Carrozzo, R



Diphallus with anorectal malformation-case report.  


Diphallus is a very rare condition. We report a case of a newborn with absent anal opening and duplication of external genitalia. Examination of the external genitalia showed two well formed penises with fully descended testis within each of the separate hemiscrotums along with soft tissue mass resembling accessory buttock behind the hemiscrotum. Staged reconstruction of duplicated genitalia and anorectal malformation was done. We achieved excellent cosmetic and functional external genitalia. PMID:20223333

Mukunda, Ramachandra; Bendre, Pradnya S; Redkar, Rajeev G; Hambarde, Sandeep



Cerebral Anomalies and Chiari Type 1 Malformation  

Microsoft Academic Search

Objective: To analyze the association of diverse cerebral anomalies in a series of pediatric patients with cerebellar tonsillar ectopia. Methods: We reviewed the medical records of 60 children diagnosed with Chiari type 1 malformation (CM1), of these, 20 patients (11 boys and 9 girls; mean age 7.2 years, range 2–16 years) had an associated cerebral anomaly. Symptoms of tonsillar ectopia

Marcelo Galarza; Juan F. Martínez-Lage; Steven Ham; Sandeep Sood



The spectrum of anorectal malformations in Africa  

Microsoft Academic Search

Anorectal malformations (ARM) remain a significant birth defect with geographic variation in incidence, individual phenotypes\\u000a and regional geographic subtypes. Although early studies indicated a low incidence in Black patients, there is a great paucity\\u000a of knowledge as to the types, frequency and incidence of ARMs encountered in the African continent and their associated anomalies.\\u000a Current evidence suggests a significant clinical

S. W. Moore; A. Alexander; D. Sidler; J. Alves; G. P. Hadley; A. Numanoglu; B. Banieghbal; M. Chitnis; D. Birabwa-Male; B. Mbuwayesango; A. Hesse; K. Lakhoo



Imaging of arteriovenous malformation following stereotactic radiosurgery  

Microsoft Academic Search

Background. Stereotactic radiosurgery allows for a high dose of focused radiation to be delivered to a small lesion such as an arteriovenous\\u000a malformation (AVM). The clinical change and brain response over time to this localized high-dose radiation can be quite striking.\\u000a Objective. The objective of this study to describe and analyse the imaging changes following radiotherapy for AVMs. Materials and

Jeffrey V. Tranchida; Christopher J. Mehall; Thomas L. Slovis; Miguel Lis-Planells



Bronchopulmonary foregut malformations: embryology, radiology and quandary  

Microsoft Academic Search

.  Bronchopulmonary foregut malformations (BPFM) are a heterogeneous group of pulmonary developmental anomalies that present\\u000a at varying ages and with overlapping symptoms, signs and radiology. This article discusses the embryology of these lesions\\u000a with reference to possible common origins and the link between aetiology and radiological appearance. The radiology of each\\u000a lesion, both antenatally and postnatally, is described and illustrated. A

N. A. Barnes; D. W. Pilling



Percutaneous Treatment of Peripheral Vascular Malformations  

Microsoft Academic Search

Vascular malformations arise from errors in the morphological processes that shape the embryonic\\u000avascular system during fetal development. These developmental errors result in abnormal clusters of\\u000ablood vessels. Although these lesions are present at birth, they might not become visible until weeks or\\u000aeven years after birth. Typically, the lesions grow in proportion to the growth of the child. A

Linden van der E



CSF flow study in Chiari I malformation  

Microsoft Academic Search

ObjectiveThe aim of this prospective study was to define the role of cardiac gated phase-contrast ciné magnetic resonance imaging in deciding the therapeutic strategy in patients with Chiari I malformation.Materials and methodsTwenty-one patients operated on between February 2000 and July 2002 were enrolled in the study. All patients underwent a detailed preoperative neurological examination. MRI of the craniovertebral junction and

M. Panigrahi; B. Praveen Reddy; A. K. Reddy; J. J. M. Reddy



The surgical treatment of Chiari I malformation  

Microsoft Academic Search

Summary A retrospective study was undertaken on 133 patients with a Chiari I malformation treated within the last 16 years at the Departments of Neurosurgery at the Nordstadt Hospital Hannover, Germany, and the University of California, Los Angeles, U.S.A. Ninety-seven patients presented with symptoms related to accompanying syringomyelia and 4 with associated syringobulbia. They underwent 149 surgical procedures and were

J. Klekamp; U. Batzdorf; M. Samii; H. W. Bothe



The challenge of large vascular malformations  

Microsoft Academic Search

Vascular malformations are of the low- or high-flow variety, the latter variety also having shunting characteristics. In this\\u000a manuscript, significant and challenging conditions will be presented. The high-flow lesions can cause excessive growth in\\u000a the local area, and severe bleeding is always a possibility, either spontaneous or during surgery. Clinical examination, angiography,\\u000a and Doppler studies confirm the diagnosis. In treatment

Ian T. Jackson



Rhombencephalosynapsis - isolated anomaly or complex malformation?  

PubMed Central

Summary Background: Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI). Material/Methods: Material consists of involves one fetus examined at the gestational age of 27 and 33 weeks and 7 children (5 girls and 2 boys) aged 8 months – 16 years. All of them underwent brain MRI with the use of 1.5T scanners. Results: In 1 case RES was an isolated anomaly, in 1 case it was accompanied by hydrocephalus only, in the remaining 6 cases RES was an element of a complex malformation. The additional anomalies were as follows: callosal hypoplasia in 3 children, abnormalities of gyration in 2, brainstem hypoplasia in 2, isolated fourth ventricle in 1, abnormal white matter signal intensity in 4 (in 2 cases in supratentorial compartment, in 1 in the cerebellum and in 1 in the pons), abnormally dilated extraaxial fluid collections in 2, syringohydromyelia in 2. In 5 cases RES was total, in 3 – partial. Conclusions: Rhombencephalosynapsis has a very characteristic appearance on magnetic resonance imaging which allows diagnosis of this malformation at any age, including prenatal period.

Bekiesinska-Figatowska, Monika; Jurkiewicz, Elzbieta; Szkudlinska-Pawlak, Sylwia; Malczyk, Katarzyna; Nowak, Katarzyna



Malformations of cortical development and epilepsy  

PubMed Central

Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures, A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etioiogic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD, The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.

Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.


Treacher Collins Syndrome  

PubMed Central

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

Chang, Christopher C.; Steinbacher, Derek M.



Resolution of cervical syringomyelia after transoral odontoidectomy and occipitocervical fusion in a patient with basilar invagination and Type I Chiari malformation.  


We present a 16-year-old male patient with Marfan's syndrome who presented with quadriparesis from a Type I Chiari malformation (CM) with basilar invagination and a syrinx. The condition resolved after transoral odontoidectomy and occipitocervical fusion without posterior decompression of the CM. Thus, ventral decompression alone can resolve a cervical syrinx in patients with compression of the foramen magnum. PMID:22989794

Dickman, Curtis A; Kalani, M Yashar S



Treatment with Embolization of Cobb' ' ' ' s Syndrome Causing High-output Heart Failure  

Microsoft Academic Search

High-output heart failure may occur in anemia, thyrotoxicosis, Beriberi heart disease, arteriovenous fistula, congenital arteriovenous malformation, Paget's disease of the bone, fibrous dysplasia, polycythemia vera, multiple myeloma, and renal diseases such as glomerulonephritis, carcinoid syndrome, pregnancy and obesity. Among these conditions, reports on heart failure resulting from an arteriovenous malformation are rare. We report a case of high-output heart failure

Hae-Rim Kim; Hyeon-Seong Kim; Kwan-Woo Nam; Ji-Sung Chung; Seung-Ki Kwok; Hye-Jung Lee; Byung-Sik Cho; Kye-Won Lee; Yong-Bum Park; Chul-Soo Park; Jong-Min Lee; Yong-Seok Oh; Ho-Joong Youn; Wook-Sung Chung; Soon-Jo Hong



Is the syndrome of pathological laughing and crying a manifestation of pseudobulbar palsy?  

Microsoft Academic Search

A case of angiographically occult brainstem vascular malformation presenting solely with pathological laughing and crying is reported. Although this emotional syndrome has been seen in association with several different pathological entities, review of the literature failed to identify its occurrence as the only clinical expression of angiographically occult brainstem vascular malformation, or as a solitary symptom in any disease. Our

W T Asfora; A A DeSalles; M Abe; R N Kjellberg



Malformations in neotropical viperids: qualitative and quantitative analysis.  


Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804

Sant'anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catão-Dias, J L



Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice.

Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar



Systemic Supply to a Pulmonary Arteriovenous Malformation: Potential Explanation for Recurrence  

SciTech Connect

A pregnant woman presented with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) and a single pulmonary arteriovenous malformation (AVM) that had been embolized 5 years previously. Partly due to pregnancy, recanalization of the aneurysm occurred with subsequent hemoptysis. Despite successful therapeutic reembolization of the afferent pulmonary artery, hemoptysis recurred 5 days later. At this time, recanalization of the pulmonary artery was not demonstrated by pulmonary angiography, but a systemic angiogram revealed a bronchial arterial supply to the pulmonary AVM. A systemic supply should always be sought in cases of recurrent hemoptysis after technically successful embolization of the feeding pulmonary artery.

Wispelaere, Jean-Francois De; Trigaux, Jean-Paul [Department of Radiology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Weynants, Patrick [Department of Pneumology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Delos, Monique [Department of Pathology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Coene, Beatrice De [Department of Radiology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium)



Heterotaxy Syndrome  

PubMed Central

Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. This broad term includes patients with a wide variety of very complex cardiac lesions. Patients with heterotaxy can be stratified into the subsets of asplenia syndrome and polysplenia syndrome, or the subsets of heterotaxy with isomerism of the right atrial appendages and heterotaxy with isomerism of the left atrial appendages. Treatment of patients with isomerism is determined by the nature and severity of the associated cardiac and extracardiac lesions. Most cardiac operations for patients with isomerism are palliative in nature, since normal anatomy is rarely achieved and mortality rates remain high for patients with heterotaxy syndrome. Patients with left isomerism in general have less severe cardiac malformations than those with right isomerism and, hence, more chance of biventricular repair. For almost all patients with right isomerism, and for many with left isomerism, biventricular repair will not be feasible, and all palliative protocols are then staging procedures prior to a Fontan-type repair. Recent advances in medical management, and improvements in surgical techniques have resulted in improved survival for these patients, and the surgical outcomes are comparable to those with Fontan circulation irrespective of the presence or absence of heterotaxy.



Congenital malformations at birth — A prospective study from south India  

Microsoft Academic Search

Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries.\\u000a The overall incidence of malformations was 3.7% and it was 3.2% among live births and 15.7% among still births. Three hundred\\u000a and ninety seven birth defects were observed among 308 live births and 72 among 45 still births. The incidence of malformation\\u000a was significantly higher

B. Vishnu Bhat; Lokesh Babu



Assessment of dysphagia in infants with facial malformations  

Microsoft Academic Search

In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever\\u000a the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations\\u000a in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns\\u000a other than isolated Pierre Robin sequence had:

Jean-Jacques Baudon; Francis Renault; Jean-Michel Goutet; Valérie Biran-Mucignat; Georges Morgant; Erea-Noel Garabedian; Marie-Paule Vazquez



Hemangiomas and Vascular Malformations: Current Theory and Management  

PubMed Central

Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies.

Richter, Gresham T.; Friedman, Adva B.



Facial nerve mapping and monitoring in lymphatic malformation surgery  

Microsoft Academic Search

ObjectiveEstablish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations.

Jospeh Chiara; Greg Kinney; Jefferson Slimp; Gi Soo Lee; Sepehr Oliaei; Jonathan A. Perkins



Congenital malformations and genetic diseases in comic books.  


Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people. PMID:12725585

Mégarbané, A; Adib, S M



Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z. [Bnai Zion Medical Center, Haifa (Israel)



Intraosseous Arteriovenous Malformation of the Sphenoid Bone Presenting with Orbital Symptoms Mimicking Cavernous Sinus Dural Arteriovenous Fistula: A Case Report  

PubMed Central

Intraosseous arteriovenous malformation (AVM) in the craniofacial region is rare. When it occurs, it is predominantly located in the mandible and maxilla. We encountered a 43-year-old woman with Klippel-Trenaunay syndrome affecting the right lower extremity who presented with a left orbital chemosis and proptosis mimicking the cavernous sinus dural arteriovenous fistula. Computed tomography angiography revealed an intraosseous AVM of the sphenoid bone. The patient's symptoms were completely relieved after embolization with Onyx. We report an extremely rare case of intraosseous AVM involving the sphenoid bone, associated with Klippel-Trenaunay syndrome.

Park, Eun Suk; Jung, Young-Jin; Yun, Jung-Ho; Ahn, Jae Sung



Tetraplegia and respiratory failure following mild cervical trauma in a child with Cornelia De Lange syndrome.  


Here we report a 6-year-old female patient with Cornelia de Lange syndrome who developed tetraplegia and respiratory failure after a seemingly trivial spinal trauma due to an spinal malformation that has not yet been described. PMID:19221546

Del Gaudio, A; Varano, L; Perrotta, F; Sorrentino, E; Pagano, A



Jacobsen syndrome  

PubMed Central

Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown.

Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul



Acral angiokeratomas in a patient with Turner syndrome.  


Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14-year-old girl with Turner syndrome who presented with a 2-year history of tender bluish-black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder. PMID:21510021

Berk, David R; Lind, Anne C; Bayliss, Susan J


Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.  


Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications. PMID:23686885

Rosti, Rasim O; Karaer, Kadri; Karaman, Birsen; Torun, Deniz; Guran, Sefik; Bahce, Muhterem



Pallister-Killian syndrome: report of one case.  


Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes. PMID:17078467

Wu, Hui-Chung; Lin, Lung-Huang; Tsai, Li-Ping; Huang, Cheng-Hung; Hung, Kun-Long; Liao, Hung-Tsai


Endovascular management of spinal arteriovenous malformations.  


Spinal arteriovenous malformations (sAVMs) are rare vascular lesions whose natural history remains incompletely defined. Several classification schemes for sAVMs have evolved based on an improved understanding of the anatomic characteristics as well as pathophysiologic behavior of these arteriovenous shunts. Advances in endovascular technology have inspired the adoption of interventional techniques both as stand-alone treatment and as part of a multi-modality management paradigm for sAVMs. Further refinements in liquid embolic agents as well as improved microcatheter navigability will contribute to an ever-expanding role for endovascular intervention in the management of these lesions. PMID:22935350

Ducruet, Andrew F; Crowley, R Webster; McDougall, Cameron G; Albuquerque, Felipe C



Congenital malformation associated with intrauterine contraceptive device.  

PubMed Central

Two infants with fibular aplasia and related limb-reduction defects were born to mothers who were using copper-containing intrauterine contraceptive devices. The possibility of a casual association is consistent with the known hazards of intrauterine devices and cannot be excluded on the available experimental evidence. More information is urgently needed, and searches, including radiography of placenta and pelvis, should be made for such devices in mothers who have used them in the past and who give birth to malformed infants. Images FIG 1 FIG 2

Barrie, H



Intracranial arteriovenous malformation presenting with papilloedema.  


Intracranial arteriovenous malformations (AVM) typically present clinically with haemorrhage, seizures or focal neurological deficit. AVM do not usually have a substantial mass effect or cause raised intracranial pressure. Rarely shunting of arterial blood into the venous system can cause raised venous pressure and consequently raised CSF pressure. The case described here is of a 37 year old man with an AVM who presented with headache and papilloedema secondary to raised CSF pressure. Following partial embolisation, to reduce fistulous flow, and stereotactic radiosurgery (SRS), to reduce the size of the AVM, both the headache and papilloedema resolved. PMID:24108890

Hayton, Tom; Gan, Peter; Sadalage, Girija; Burdon, Michael



The pediatric Chiari I malformation: a review  

Microsoft Academic Search

Background  Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions  Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for

R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes



[Pelvic arteriovenous malformation : a case report].  


A 70-year-old male presented with intermittent macroscopic hematuria. There was no history of previous trauma or pelvic operation. At first, we were unable to clarify the origin of the hematuria, but 3D computed tomography revealed an arteriovenous malformation (AVM) consisting of multiple feeding vessels arising from the bilateral, especially right, internal iliac artery. Treatment with transcatheter arterial embolization (TAE) with a combination of lipiodol and N-butyl-2-cyanoacrylate twice was effective. He needs to be followed up carefully for recurrence of AVM. PMID:23945325

Suzuki, Kotaro; Kusuda, Yuji; Yamada, Yuji; Nose, Ryuichiro; Matsui, Takashi; Sanda, Yuki; Mori, Takeki; Sugimoto, Koji



Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.  


Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes. PMID:13679294

Samimi, Sarah S; Lesley, Walter S



Ivemark syndrome. A case with successful surgical intervention.  


A 19-day-old boy with Ivemark syndrome (splenic agenesis associated with complex cardiac malformations and visceral abnormality) underwent palliative surgery including Glenn and hemi-Fontan procedures. Five months later the child is alive and well. We believe that early palliative surgery is worthwhile in Ivemark syndrome with a single ventricle. PMID:9264168

Tkebuchava, T; von Segesser, L K; Lachat, M; Genoni, M; Bauersfeld, U; Turina, M



cause tricho-rhino-pha langeal syndrome type I  

Microsoft Academic Search

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal domi- nant manner 1 . TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion bor- der and protruding ears. Skeletal abnormalities include cone- shaped

Parastoo Momeni; Gernot Glöckner; Olaf Schmidt; Diane von Holtum; Beate Albrecht; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Peter Meinecke; Bernhard Zabel; André Rosenthal; Bernhard Horsthemke; Hermann-Josef Lüdecke


A case of Cornelia de Lange syndrome from Sudan  

Microsoft Academic Search

BACKGROUND: Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION: Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition.

Mona Ellaithi; David Gisselsson; Therese Nilsson; Atif Elagib; Imad Fadl-Elmula; Mashair Abdelgadir



Two Cases of Walker-Warburg Syndrome Complicated by Hydrocephalus  

Microsoft Academic Search

Walker-Warburg syndrome is a very rare autosomal recessive disorder with congenital muscular dystrophy, brain malformations on the basis of a neuronal migration defect and ocular abnormalities. We report our experience in treating two cases of Walker-Warburg syndrome complicated by hydrocephalus with shunting and endoscopic techniques.

M. Preuss; M. Heckmann; M. Stein; U. Nestler



Fat embolism after liposuction in Klippel-Trenaunay syndrome.  


Fat embolism syndrome (FES) is a rare but potentially fatal postoperative complication from liposuction. We present the case of a 24-year-old woman with Klippel-Trenaunay syndrome who developed FES as a complication of lower extremity liposuction. There may be an increased risk of FES in patients with vascular malformations undergoing liposuction. PMID:23851798

Zeidman, Michael; Durand, Paul; Kundu, Neilendu; Doumit, Gaby



A clinical study of 57 children with fetal anticonvulsant syndromes  

Microsoft Academic Search

BACKGROUNDAnticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndromes.METHODSFifty two children were ascertained through the Fetal Anticonvulsant Syndrome Association and five were referred to the Aberdeen Medical

S J Moore; P Turnpenny; A Quinn; S Glover; D J Lloyd; T Montgomery; J C S Dean



Twenty-year trends in prevalence and survival of Down syndrome  

Microsoft Academic Search

The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year survival in Down syndrome. A retrospective review was made of prospectively collected data on all cases of Down syndrome within a malformation registry born

Claire Irving; Anna Basu; Sam Richmond; John Burn; Christopher Wren



Sturge-Weber and Klippel-Trenaunay syndromes with absence of inferior vena cava  

Microsoft Academic Search

A baby girl born at 33 weeks' gestation weighing 2250 g presented with Sturge-Weber syndrome, features of the Klippel-Trenaunay syndrome, and absence of the inferior vena cava. We suggest that aplasia of the vena cava may be a feature of Klippel-Trenaunay syndrome when the capillary malformation affects the trunk.

G Stewart; G Farmer



Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome  

Microsoft Academic Search

Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation\\u000a combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei,\\u000a corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary.\\u000a The brain had malformative features of

M. Hayashi; K. Sakamoto; K. Kurata; J. Nagata; J. Satoh; Y. Morimatsu



PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review  

PubMed Central

“PHACES” is a neurocutaneous syndrome that refers to the following associations: Posterior fossa malformations, Hemangiomas, Arterial malformations, Coarctation of the aorta/Cardiac defects, Eye abnormalities, and Sternal defects. Herein, we report the association of PHACES syndrome with airway hemangioma, a serious association that should not be overlooked. The findings of such an association presented here are the first to be reported from Saudi Arabia.

Alsuwaidan, Sami N.



Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children.  


A series of 1042 reports of necropsies on children dying at Children's Hospital of Pittsburgh was reviewed. In each case, note was taken of the status of the spleen, the lobation of the lungs, the arrangement of the bronchi, the morphology of the atrial appendages, and the presence of any congenital malformations of the heart and great vessels and of any malformations of the abdominal organs. There was isomerism of the left atrial appendages in eight (0.77%), 13 (1.25%) showed isomerism of the right appendages, and seven (0.67%) had multiple spleens without having isomerism of the atrial appendages. Unexpectedly, a normal spleen was found in one patient with isomerism of the right appendages and also in a patient with isomerism of the left appendages. In one patient with isomeric left atrial appendages there was no spleen. The review showed that the morphology of the atrial appendages, and hence the arrangement of the atria, is not accurately predicted by the type of spleen. The arrangement of the atrial appendages is the most reliable guide to the recognised combinations of congenital cardiac malformations previously described as "splenic syndromes". Because there is no certain way of predicting all the malformations in patients with complex congenital heart disease, it is advisable to record separately for each patient the details of lobation of the lungs, the bronchial and atrial arrangement, anomalies of the heart and great vessels, the type of spleen, and any abnormal arrangement of the abdominal organs. PMID:2317406

Anderson, C; Devine, W A; Anderson, R H; Debich, D E; Zuberbuhler, J R



Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children.  

PubMed Central

A series of 1042 reports of necropsies on children dying at Children's Hospital of Pittsburgh was reviewed. In each case, note was taken of the status of the spleen, the lobation of the lungs, the arrangement of the bronchi, the morphology of the atrial appendages, and the presence of any congenital malformations of the heart and great vessels and of any malformations of the abdominal organs. There was isomerism of the left atrial appendages in eight (0.77%), 13 (1.25%) showed isomerism of the right appendages, and seven (0.67%) had multiple spleens without having isomerism of the atrial appendages. Unexpectedly, a normal spleen was found in one patient with isomerism of the right appendages and also in a patient with isomerism of the left appendages. In one patient with isomeric left atrial appendages there was no spleen. The review showed that the morphology of the atrial appendages, and hence the arrangement of the atria, is not accurately predicted by the type of spleen. The arrangement of the atrial appendages is the most reliable guide to the recognised combinations of congenital cardiac malformations previously described as "splenic syndromes". Because there is no certain way of predicting all the malformations in patients with complex congenital heart disease, it is advisable to record separately for each patient the details of lobation of the lungs, the bronchial and atrial arrangement, anomalies of the heart and great vessels, the type of spleen, and any abnormal arrangement of the abdominal organs. Images

Anderson, C; Devine, W A; Anderson, R H; Debich, D E; Zuberbuhler, J R



Evolutionary hypothesis for Chiari type I malformation.  


Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (?5mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7million years. PMID:23948602

Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme



Jaw development and malformation in cultured striped trumpeter Latris lineata  

Microsoft Academic Search

Intensive culture of striped trumpeter (Latris lineata) has resulted in a high incidence of jaw malformation in juveniles. In this study, cranial and jaw development in striped trumpeter was described in cultured larvae reared in greenwater on rotifers and Artemia. Jaw malformation was only evident in post-flexion larvae greater than the standard length of 10 mm and was characterised by

J. M Cobcroft; P. M Pankhurst; J Sadler; P. R Hart



Congenital malformations of the external and middle ear  

Microsoft Academic Search

With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis

S. Kösling; M. Omenzetter; S. Bartel-Friedrich



Tumeurs et malformations vasculaires, classification anatomopathologique et imagerie  

Microsoft Academic Search

The understanding of vascular anomalies (vascular tumours and vascular malformations) was obscured, for a long time, by confusion and uncertainties in nosology and terminology. The International Society for the Study of Vascular Anomalies (ISSVA) recently adopted a classification scheme, clearly separating vascular tumours (hemangiomas of different types) which result from active cell proliferation, from vascular malformations, which are inborn defects

M. Wassef; R. Vanwijck; P. Clapuyt; L. Boon; G. Magalon



Microsurgery for cerebral arteriovenous malformation management: a Siberian experience  

Microsoft Academic Search

Cerebral vascular malformations remain among the most difficult neurosurgical entities to treat. We report a retrospective study of the outcome in 95 consecutive patients with angiographically revealed arteriovenous malformations (AVMs). Fifty-four patients underwent microsurgical total AVM removal (group I). Forty-one patients who refused open surgery (group II) were managed either by endovascular embolisation (16 cases), radiosurgery (three) or followed up

Alexei L. Krivoshapkin; Evstafy G. Melidy



Vascular malformations in the uterus: ultrasonographic diagnosis and conservative management  

Microsoft Academic Search

Objective: To investigate the presence and outcome of uterine vascular malformations in women with abnormal premenopausal bleeding. Study design: In this observational study 265 consecutive patients with abnormal premenopausal bleeding were examined by the same ultrasonographer with transvaginal gray-scale ultrasonography and color Doppler imaging. A final diagnosis of uterine vascular malformation was based on ultrasonographic findings, hysteroscopy or histological findings.

Dirk Timmerman; Thierry Van den Bosch; Karen Peeraer; Ellen Debrouwere; Dominique Van Schoubroeck; Luc Stockx; Bernard Spitz



Sudden death revealing Chiari type 1 malformation in two children  

Microsoft Academic Search

We report the first two fatal cases of suddden unprovoked cardiorespiratory arrest in children with previously undiagnosed Arnold-Chiari type 1 malformation. This diagnosis should be considered in children with unexplained cardiorespiratory arrest. The risk of sudden death in Arnold-Chiari type 1 malformation reinforces the indication for early neurosurgical procedure.

A. Martinot; V. Hue; F. Leclerc; L. Vallee; M. Closset; J. P. Pruvo



The ear and its malformations: strange beliefs and misconceptions  

Microsoft Academic Search

Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and

Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi



Cardiovascular malformations in congenital diaphragmatic hernia: Human and experimental studies  

Microsoft Academic Search

Background\\/Purpose: Cardiovascular malformations (CVM) associated with congenital diaphragmatic hernia (CDH) account in part for the high mortality caused by this defect. The aim of this study is to examine the nature of these malformations in a large series of autopsies and to assess if similar defects are also present in rat fetuses with experimental CDH.Methods: The incidence of CVM and

Lucia Migliazza; Christian Otten; Huimin Xia; Jose I. Rodriguez; Juan A. Diez-Pardo; Juan A. Tovar



Bronchogenic Cysts: A Rare Congenital Cystic Malformation of the Lung  

Microsoft Academic Search

Purpose Bronchogenic cysts are rare congenital cystic malformations of the lung. We retrospectively analyzed ten cases of bronchogenic cyst (BC) to reinforce the importance of recognizing this malformation. Methods Between 1985 and 2000, ten pediatric patients with BC were treated surgically in our department. Their clinical presentation, radiological, operative, and pathological findings were analyzed retrospectively. Results There were five boys

Gülay A. Tireli; Hüseyin Özbey; Abdülkerim Temiz; Tansu Salman; Alaaddin Çelik



Spinal meningeal malformations in children (without meningoceles or meningomyeloceles)  

Microsoft Academic Search

Multiple meningeal malformations are described: anterior or lateral meningoceles, extradural meningeal cysts, and intradural arachnoid cysts. All diverticulae appear to be extensions of the subarachnoid space, producing symptoms early or later. It is impossible to unify all these lesions because they cause multiple pathological conditions, depending upon the anatomical form or level, other systemic malformations, spinal abnormalities, or associated familial

Jacques Richaud



Successful percutaneous coil occlusion of a large pulmonary arteriovenous malformation.  


Pulmonary arteriovenous malformation is one of the rarest congenital anomalies of cardiovascular system. We present a case of 30-year-old female with a large pulmonary arteriovenous malformation (PAVM) arising from the right lower pulmonary artery and draining to the left atrium. She underwent successful embolization using three detachable Cook coils. PMID:15530285

Jameel, Al-Ata; Arfi, Amin Muhammed; Ayman, M S; Nasser, Mahdi; Amjad, Kouatli; Iskandar, Al-Githmi



Caudal duplication syndrome.  


Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level. PMID:24049755

Sur, Amitava; Sardar, Syamal Kumar; Paria, Anshuman



Caudal Duplication Syndrome  

PubMed Central

Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. Its prevalence at birth is less than 1 per 100,000. The term caudal duplication encompasses a spectrum of anomalies and is often used to describe incomplete separation of monovular twins or referred to as part of the spectrum of anomalies associated with conjoined twinning. It usually includes multiple rare malformations and duplications of distal organs derived from the hindgut, neural tube, and caudal mesoderm. It was postulated that the disorder is related to misexpression of one or more of the distal HOX genes, potentially HOX10 or HOX11, leading to abnormal proliferation of caudal mesenchyme. The malformations are usually diagnosed by anomaly scan in the second trimester. Here we report the case of a baby presenting on the first day of life with complete duplication of caudal structures below the dorsolumbar level.

Sur, Amitava; Sardar, Syamal Kumar; Paria, Anshuman



[Thoracic surgery in neonates and infants with congenital malformations].  


Congenital malformations of the lung and diaphragm are a challenge in paediatric surgery. Depending on the malformation they show a broad spectrum of symptoms and a varying age at manifestation. Thus there are many diagnostic and therapeutic options, which require a good knowledge of the pathology. The treatment of these complex cases should lead to early referral to paediatric centres containing an interdisciplinary team with neonatologists, paediatric pulmonologists and cardiologists, ENT surgeons, anaesthesiologists, radiologists and paediatric surgeons. Some malformations are diagnosed prenatally and need intrauterine interventions. Decisive is the early diagnosis and treatment of these malformations. Nowadays the surgical therapy of neonates and infants with malformations of the lung and diaphragm is enriched by a number of endoscopic and endoluminal techniques, which are discussed critically in this article. PMID:20020383

Metzger, R; Till, H



Comment: valproate dose effects differ across congenital malformations.  


Fetal valproate exposure has been associated with the highest risk of congenital malformations among antiepileptic drugs.(1) Valproate's effect is dose-dependent(1) and has been associated with multiple specific malformations.(2,3) Vadja et al.(4) examined data from the Australian Pregnancy Registry (1999-2012 data), which included 1,705 pregnancies with 436 valproate exposures.(4) They found that the use and dosages of valproate have fallen over the last 5 years. The rates of spina bifida and hypospadius in those exposed dropped with reducing dosages of valproate, but the rates of other malformations did not. Mean dosages for malformations were higher for spina bifida (2,000 mg/d) and hypospadius (2,417 mg/d) than all other malformations (1,083 mg/d). PMID:23911754

Meador, Kimford J



The study of malformations "by the company they keep".  

PubMed Central

Our study of individuals with thalidomide embryopathy reaffirms many of the principles of clinical teratology concerning sensitivity of developing structures and specificity of action. It also highlights important features of ocular teratology that differ from those of other organ systems. Because malformations of the eye and associated structures do not significantly threaten the survival of the embryo, fetus, or neonate, any variation in prevalence in older individuals is not due to the nature of the ocular malformation but may be significantly modified by "the company they keep," the systemic malformations occurring at the same time as the original insult, whether it be an environmental, a genetic, or a local disturbance. Additionally, the presence of clusters of malformations caused by a teratogen at a specific time supports the concept of a common pathogenic mechanism and provides suggested avenues for further research into the cause of these malformations.

Miller, M T; Stromland, K



Mitochondrial dysfunction in a patient with Joubert syndrome  

Microsoft Academic Search

Joubert syndrome is a genetically heterogeneous disorder. The diagnostic criteria include episodic hyperventilation, abnormal eye movements, psychomotor retardation, hypotonia, ataxia, and the characteristic neuro-imaging findings (molar-tooth sign). Many of these clinical features have been observed in new-borns with mitochondrial disorders as well. Congenital brain malformations, including cerebellar hypoplasia, have been described in pyruvate dehydrogenase deficiency. Malformations of the vermis and

E. Morava; A. Dinopoulos; H. Y. Kroes; R. J. T. Rodenburg; J. H. L. M. van Bokhoven; L. P. W. J. van den Heuvel; J. A. M. Smeitink



[Parkes-Weber syndrome and pregnancy: anaesthetic implications].  


We report two deliveries in a patient with a Parkes-Weber syndrome. This parturient had a complex angiodysplasia including a soft tissue hypertrophy of a lower limb, a cutaneous angioma and arteriovenous malformations. The risk of perimedullar arteriovenous malformations was ruled out by angiographic magnetic resonance imaging of the spinal cord. We also describe other aspects of the management, including prepartum cardiovascular assessment, mode of delivery, the use of epidural analgesia and the prevention of haemorrhagia and thromboembolism. PMID:23607985

Schaal, J-V; Benhamou, D; Boyer, K; Mercier, F J



Scimitar syndrome in an older adult  

Microsoft Academic Search

Scimitar syndrome is a rare congenital heart disease. It is divided into subgroups of infantile, adult, and multiple cardiac and extracardiac malformation. Most patients are diagnosed during infancy and occasionally in adolescence, but very few patients are older than 20 years of age, and only some cases have severe symptoms that require surgical correction. We report a case of a

Shiang-Fen Huang; Wen-Chung Yu; Jia-Haur Chern; Yu-Chin Lee


Congenital Bilateral Perisylvian Syndrome and Eating Epilepsy  

Microsoft Academic Search

Congenital bilateral perisylvian syndrome (CBPS), described by Kuzniecky et al. [1] in 1993, consists of developmental delay from childhood, mild to moderate mental retardation, particularly manifest as delays of language acquisition, tonic or atonic seizures and atypical absence seizures beginning in childhood, pseudobulbar palsy, manifest as dysarthria and a poor gag reflex, and bilateral perisylvian malformations on imaging. The most

Takamasa Kishi; Makoto Moriya; Yasuo Kimoto; Yohsuke Nishio; Takeo Tanaka



[The syndrome of polysplenia (author's transl)].  


A strong tendency to symmetrical development of the organ systems manifests itself in the syndrome of Polysplenia. These symmetrical organs show the anatomy of leftsided structures. For this reason the syndrome is also referred to as the "syndrome of bilateral leftsidedness". It encompasses complex abnormalities of situs, typical cardiac and vascular deformities as well as extracardiac malformations. Polysplenia is the leading symptom. Diagnosis is rarely made intra vitam. Certain typical deformities can give hints to this diagnosis, which is finally proved by szintigraphic and arteriographic visualization of multiple spleens. A typical case is reported and subsequently discussed according to the picture of this syndrome in the literature. PMID:142049

Zach, M; Beitzke, A; Gypser, G; Sager, W



Poland syndrome associated with renal agenesis.  


Poland syndrome is characterized by unilateral aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle and ipsilateral syndactyly. In some cases other associated anomalies, including renal malformations, dextrocardia, and vertebral abnormalities, have been reported. We report a 7-month-old girl with Poland syndrome who also presented with ipsilateral renal agenesis. This report suggests that renal structural anomaly may be an integral part of this syndrome. We recommend renal imaging studies be performed on all children with Poland syndrome. PMID:11956880

Assadi, F K; Salem, M



Cervical spine in Treacher Collins syndrome.  


Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton. PMID:22627438

Pun, Amy Hoi-Ying; Clark, Bruce Eric; David, David John; Anderson, Peter John



Poland syndrome associated with renal agenesis  

Microsoft Academic Search

Poland syndrome is characterized by unilateral aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle\\u000a and ipsilateral syndactyly. In some cases other associated anomalies, including renal malformations, dextrocardia, and vertebral\\u000a abnormalities, have been reported. We report a 7-month-old girl with Poland syndrome who also presented with ipsilateral renal\\u000a agenesis. This report suggests that renal structural anomaly may

F. K. Assadi; M. Salem



Lumbocostovertebral syndrome with associated VACTERL anomaly.  


Lumbocostovertebral syndrome is a rare clinical association syndrome rarely accompanied by associated VACTERL anomalies. Only one similar case has been reported previously. We describe the second case, where a male neonate born at 38 weeks of gestation had an unusually high number of congenital anomalies including thoracic hemivertebrae with kyphoscoliosis, a high anorectal malformation, dextrocardia with an atrial septal defect, renal pelvic pyelectasis, hypospadias, and congenital talipes equinovarus. PMID:20850610

Lyngdoh, Toijam S; Mahalik, Santosh; Naredi, Bikash; Samujh, Ram; Khanna, Sanat



Giant dacryocystocele and congenital alacrimia in lacrimo-auriculo-dento-digital syndrome.  


The lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome, is a rare multiple congenital dysplasia characterized by malformation of the lacrimal apparatus and by aural, dental, and digital anomalies. Since the first report in 1973, different clinical findings such as urogenital malformations and facial dysmorphism have been described in the affected patients, showing that the phenotypic spectrum of the syndrome is broad. The authors report for the first time an association among giant dacryocystocele, alacrima, and agenesis of the lacrimal puncta in a patient with lacrimo-auriculo-dento-digital syndrome. PMID:23128532

Santo, Rodrigo O Espirito; Golbert, Marcelo B; Akaishi, Patricia M S; Cruz, Antonio A V; Cintra, Murilo B


Treatment of arteriovenous malformations of the brain.  


The treatment of ruptured and unruptured brain arteriovenous malformations (AVMs) is driven by the need to prevent incident or recurrent intracranial hemorrhages. Improving feasibility of the rapidly developing endovascular, neurosurgical, and radiotherapeutic procedures leads to invasive treatment of an increasing number of neurologically intact patients with accidentally diagnosed AVMs. Recent data confirm that the natural history risk of unruptured AVMs is significantly lower than the risk of those presenting with rupture, and the treatment risk of invasive management of unruptured AVMs seems higher than their natural history risk. The treatment decision algorithm for these patients remains unsettled, as no randomized clinical trial data exist on the benefit of invasive AVM treatment for patients with bled or with unbled AVMs. The recently launched study A Randomized Trial of Unruptured Brain AVMs (ARUBA) will be the first trial randomizing patients with nonhemorrhaged AVMs to invasive versus conservative management. PMID:17217851

Hartmann, Andreas; Mast, Henning; Choi, Jae H; Stapf, Christian; Mohr, Jay P



Surgical treatment of intracranial arteriovenous malformation.  


The surgical indication and techniques of intracranial arteriovenous malformations are discussed, on the basis of 203 experiences with AVMs. A special key point in our surgical techniques is described as follows. The feeding arteries of the AVM--or the main artery at the base of the brain, which is the original source of the feeding artery--are identified and prepared, and then temporary clips are placed on these arteries to produce vascular occlusion prior to the dissection of the AVM itself. During these procedures, 20% of mannitol should be administered to prolong the permissible time of cerebral artery occlusion. The administration method of mannitol is described in detail including dose and time schedule. The new prolongation method of temporary occlusion time, for which mannitol with fluorochemicals permits longer occlusion time, is also introduced. PMID:6129587

Suzuki, J; Onuma, T; Kayama, T



Craniofrontonasal dysplasia associated with Chiari malformation.  


Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented. PMID:20367343

Mahore, Amit; Shah, Abhidha; Nadkarni, Trimurti; Goel, Atul



Familial Dandy-Walker malformation and leukodystrophy.  


We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968

Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B



Small Rho-GTPases and cortical malformations  

PubMed Central

Rho-GTPases have been found to be crucial for cytoskeleton remodelling and cell polarity, as well as key players in directed cell migration in various tissues and organs, therefore becoming good candidates for involvement in neuronal migration disorders. We recently found that genetic deletion of the small GTPase RhoA in the developing mouse cerebral cortex results in three distinct cortical malformations: a defect in the proliferation of progenitor cells during development that leads to a bigger cerebral cortex in the adult mouse, a change in the morphology of radial glial cells that results in the formation of a subcortical band heterotopia (SBH, also called Double Cortex) and an increase in the speed of migrating newborn neurons. The latter, together with the aberrant radial glial shape, is likely to be the cause of cobblestone lissencephaly, where neurons protrude beyond layer I at the pial surface of the brain.



Complications of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

Summary Embolization is recognized as an important adjunct in the treatment of cerebral arteriovenous malformations (AVMs). We reviewed our results of embolizations for AVMs and discussed procedure-related complications. Eleven complications were recorded in 68 consecutive patients (16%). Of these, four were technical problems including a glued catheter, inability to withdraw the catheter, vessel perforation by the microcatheter, and coil migration. Other complications included three cases of ischemic symptoms due to retrograde thrombosis, two cases of asymptomatic cerebral infarction, one case of asymptomatic small haemorrhage due to venous occlusion, and one case of post-embolization haemorrhage of unknown etiology. Our morbidity rate was 7%, mortality rate was 0%, and asymptomatic complication torospectively. Further improvements to endovascular techniques and devices are required.

Sugiu, K.; Tokunaga, K.; Sasahara, W.; Watanabe, K.; Nishida, A.; Ono, S.; Nishio, S.; Date, I.; Rufenacht, D. A.



Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.  


The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area. PMID:17043876

Golalipour, Mohammad Jafar; Mobasheri, Elham; Hoseinpour, Kaniz-Reza; Keshtkar, Abbas Ali



Seizure risk from cavernous or arteriovenous malformations  

PubMed Central

Objectives: To determine the risk of epileptic seizures due to a brain arteriovenous malformation (AVM) or cavernous malformation (CM). Methods: In a prospective population-based study of new diagnoses of AVMs (n = 229) or CMs (n = 139) in adults in Scotland in 1999–2003, we used annual medical records surveillance, general practitioner follow-up, and patient questionnaires to quantify the risk of seizures between clinical presentation and AVM/CM treatment, last follow-up, or death. Results: The 5-year risk of first-ever seizure after presentation was higher for AVMs presenting with intracranial hemorrhage or focal neurologic deficit (ICH/FND: n = 119; 23%, 95% confidence interval [CI] 9%–37%) than for incidental AVMs (n = 40; 8%, 95% CI 0%–20%), CMs presenting with ICH/FND (n = 38; 6%, 95% CI 0%–14%), or incidental CMs (n = 57; 4%, 95% CI 0%–10%). For adults who had never experienced ICH/FND, the 5-year risk of epilepsy after first-ever seizure was higher for CMs (n = 23; 94%, 95% CI 84%–100%) than AVMs (n = 37; 58%, 95% CI 40%–76%; p = 0.02). Among adults who never experienced ICH/FND and presented with or developed epilepsy, there was no difference in the proportions achieving 2-year seizure freedom over 5 years between AVMs (n = 43; 45%, 95% CI 20%–70%) and CMs (n = 35; 47%, 95% CI 27%–67%). Conclusions: AVM-related ICH confers a significantly higher risk of a first-ever seizure compared to CMs or incidental AVMs. Adults with a CM have a high risk of epilepsy after a first-ever seizure but achieve seizure freedom as frequently as those with epilepsy due to an AVM.

Josephson, C.B.; Leach, J.-P.; Duncan, R.; Roberts, R.C.; Counsell, C.E.



Chronic Iliac Vein Occlusion and Painful Nonhealing Ulcer Induced by High Venous Pressures from an Arteriovenous Malformation  

PubMed Central

Chronic femoral vein compression (May-Thurner Syndrome) is a known rare cause of deep venous thrombosis. Subsequent angiogenesis and the development of arteriovenous malformation (AVM) in the setting of chronic venous thrombosis is by itself a rare and poorly understood phenomenon. We report a case in which elevated venous pressures resulting from such compression appear to have resulted in the development of a pelvic arteriovenous malformation, which was further complicated by chronic, nonhealing painful lower extremity ulcers, and the development of extensive subcutaneous venous collaterals. Following successful embolization of the pelvic AVM and ablation of veins under the ulcers with laser and sclerotherapy, the patient's ulcers healed and she became pain-free.

Link, Daniel P.; Granchi, Phillip J.



A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.  


Glomuvenous malformations (GVM) are hamartomas characterized histologically by glomus cells, which should be distinguished from glomus tumors. Familial GVM are rare, often present as multiple lesions, and exhibit familial aggregation, with autosomal dominant transmission. GVM are caused by mutations of the glomulin (GLMN) gene on chromosome 1p21-p22. Their development is thought to follow the 'two-hit' hypothesis, with a somatic mutation required in addition to the inherited germline mutation. We describe a novel GLMN mutation in an Italian family with GVM in which some members present with the less commonly observed phenotype of solitary lesions. A second somatic 'hit' mutation in GLMN was not discovered in our family. We further provide histological, immunohistochemical and electron microscopic data exhibiting the classic features of GVM. The diagnosis of GVM is critical because of distinction from venous malformations and blue rubber bleb nevus syndrome, which may demonstrate clinical similarities but require different treatment. PMID:22092580

Borroni, Riccardo G; Narula, Nupoor; Diegoli, Marta; Grasso, Maurizia; Concardi, Monica; Rosso, Renato; Cerica, Alessandra; Brazzelli, Valeria; Arbustini, Eloisa



Expansion of Carraro syndrome or a new disorder?  


A 6-year-old girl is described with a unique, rare type of tibial hemimelia known as Carraro syndrome (OIMI 275230). There are only two previous reports of this condition in the literature. In our patient, the tibia anomaly was associated with other skeletal abnormalities, hemivertebra and tetralogy of Fallot. This association of malformations has not previously been reported. We conclude that this girl has either a variant of Carraro syndrome or a new syndrome. PMID:19997747

Sulko, Jerzy; Miklaszewski, Krzysztof; Podosek, Adam; Kozlowski, Kazimierz



The asplenia syndrome: an explanation for absence of the spleen.  


Study of a case of the so-called asplenia syndrome with a miniscule spleen suggested that the latter was caused by the pressure of neighboring viscera and interference with blood supply. Consequently, it is considered that splenic disturbance arises independently of the other malformations in this syndrome. It is also possible that similar factors may be operative in the formation of multiple spleens in the polysplenia syndrome. PMID:7101199

Monie, I W



Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects  

PubMed Central

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3–4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down’s syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio’s syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73–76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic “dolicho-odontoid process”. All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico–cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic “dolicho-odontoid process” were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported.

Chehida, Farid Ben; Gharbi, Hassan; Ghachem, Maher Ben; Grill, Franz; Varga, Franz; Klaushofer, Klaus



Surgical treatment of arteriovenous malformations of the posterior fossa.  


Nine cases of arteriovenous malformations of the posterior fossa were operated upon, using microsurgical techniques. The excision was radical in eight patients. Seven of them, as well as the sole patient who had a partial removal of the malformation, returned to their previous occupations without neurological signs. In one case the preoperative deficit was unchanged. Some lesions that appear to penetrate the brain stem actually lie on its surface and can be dissected through an extrapial plane of cleavage. Extension of the malformation into the cerebellar peduncles requires dissection of the tangle and opening of the IVth ventricle. PMID:515935

Viale, G L; Pau, A; Viale, E S



Cerebral arteriovenous malformation in pregnancy: Presentation and neurologic, obstetric, and ethical significance  

Microsoft Academic Search

Cerebral arteriovenous malformations infrequently complicate pregnancy. We sought to determine the neurologic, obstetric, and ethical significance of such malformations. We present the clinical course of 2 pregnant women with arteriovenous malformations who experienced cerebral hemorrhage and a loss of capacity for decision making. We also review the neurologic and obstetric significance of arteriovenous malformations in pregnancy. Various treatment options with

James J. Finnerty; Christian A. Chisholm; Helen Chapple; JoAnn V. Pinkerton



A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene  

Microsoft Academic Search

Antley-Bixler syndrome (ABS) is a skeletal malformation syndrome primarily affecting the skull and limbs. Although causal\\u000a mutations in the FGFR2 gene have been found in some patients, mutations in the electron donor enzyme P450 oxidoreductase gene (POR) have recently been found to cause ABS in other patients. In addition to skeletal malformations, POR deficiency also causes\\u000a glucocorticoid deficiency and congenital

Jung Min Ko; Chong-Kun Cheon; Gu-Hwan Kim; Han-Wook Yoo




Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL


Cleft palate in Williams syndrome  

PubMed Central

Williams–Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the “elastin” gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations.

Domenico, Scopelliti; Orlando, Cipriani; Graziana, Fatone Flavia Maria; Papi, Piero; Giulia, Amodeo



Cleft palate in Williams syndrome.  


Williams-Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations. PMID:23662266

Domenico, Scopelliti; Orlando, Cipriani; Graziana, Fatone Flavia Maria; Papi, Piero; Giulia, Amodeo



Atlantoaxial dislocation and Down's syndrome.  


The phenotypic features of Down's syndrome are easily recognized and include characteristic facial features, hypotonia, ligament laxity, transverse palmar creases and mental subnormality. Associated manifestations and complications are also familiar and involve almost every organ system. Congenital heart defects, bowel malformations and a tendency to leukemia are common attendant problems. Less common, however, are defects of the skeletal system; in fact, the most recent edition of a standard pediatric textbook makes no mention of anomalies of the vertebral column. The purpose of this paper is to call attention to the association between Down's syndrome and atlantoaxial dislocation, which in our patient resulted in quadriplegia and eventually death. PMID:6448087

Whaley, W J; Gray, W D



Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management  

PubMed Central

Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension.

Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.



Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations  

PubMed Central

Background: Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations. Methods: We used a commercially available array based comparative genomic hybridisation method (array CGH), able to screen all subtelomeric regions, main microdeletion syndromes, and 201 other regions covering the genome, to detect submicroscopic chromosomal imbalances in 49 fetuses with three or more significant anomalies and normal karyotype. Results: Array CGH identified eight genomic rearrangements (16.3%), all confirmed by quantitative multiplex PCR of short fluorescent fragments. Subtelomeric and interstitial deletions, submicroscopic duplications, and a complex genomic imbalance were identified. In four de novo cases (15qtel deletion, 16q23.1–q23.3 deletion, 22q11.2 deletion, and mosaicism for a rearranged chromosome 18), the genomic imbalance identified clearly underlay the pathological phenotype. In one case, the relationship between the genotype and phenotype was unclear, since a subtelomeric 6q deletion was detected in a mother and her two fetuses bearing multiple malformations. In three cases, a subtelomeric 10q duplication, probably a genomic polymorphism, was identified. Conclusions: The detection of 5/49 causative chromosomal imbalances (or 4/49 if the 6qtel deletion is not considered as causative) suggests wide genome screening when standard chromosome analysis is normal and confirms that array CGH will have a major impact on pre and postnatal diagnosis as well as providing information for more accurate genetic counselling.

Le Caignec, C; Boceno, M; Saugier-Veber, P; Jacquemont, S; Joubert, M; David, A; Frebourg, T; Rival, J



Histopathological study of congenital aortic valve malformations in 32 children  

Microsoft Academic Search

The histopathological characteristics of congenital aortic valve malformations in children were investigated. All the native\\u000a surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital\\u000a aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically. The patients’\\u000a medical records were reviewed and the clinical information was extracted. The diagnosis

Ping Huang; Hongwei Wang; Yanping Li; Peixuan Cheng; Qingjun Liu; Zhenlu Zhang; Jianying Liu



Contemporary Themes: Congenital Malformations and the Problem of their Control*  

PubMed Central

The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth.

Lowe, C. R.



Dandy-Walker malformation: analysis of 38 cases  

Microsoft Academic Search

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent

I. Pascual-Castroviejo; A. Velez; S. I. Pascual-Pascual; M. C. Roche; F. Villarejo



MRI characteristics and classification of peripheral vascular malformations and tumors  

Microsoft Academic Search

Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality\\u000a in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management\\u000a since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance\\u000a imaging (MRI) is a noninvasive effective

Hicham Moukaddam; Jeffrey Pollak; Andrew H. Haims



Vein of Galen malformations: epidemiology, clinical presentations, management.  


The vein of Galen aneurysmal malformation is a congenital vascular malformation that comprises 30% of the pediatric vascular and 1% of all pediatric congenital anomalies. Treatment is dependent on the timing of presentation and clinical manifestations. With the development of endovascular techniques, treatment paradigms have changed and clinical outcomes have significantly improved. In this article, the developmental embryology, clinical features and pathophysiology, diagnostic workup, and management strategies are reviewed. PMID:22107867

Recinos, Pablo F; Rahmathulla, Gazanfar; Pearl, Monica; Recinos, Violette Renard; Jallo, George I; Gailloud, Philippe; Ahn, Edward S



Multiple medullary venous malformations decreasing cerebral blood flow: Case report  

SciTech Connect

A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. (Research Institute for Brain and Blood Vessels, Akita (Japan))



Occupational exposure to glycol ethers and human congenital malformations  

Microsoft Academic Search

ObjectivesThis commentary reviews toxicological information and critically evaluates epidemiological information on the relationship between glycol ethers and congenital malformations.MethodsThe authors identified and assessed toxicological and epidemiological research on glycol ethers used in occupational settings and congenital malformations. Sensitivity analyses evaluated the possible role of methodological problems in explaining the findings of the epidemiological studies.ResultsExposure to certain glycol ethers, including ethylene

George Maldonado; Elizabeth Delzell; Rochelle W. Tyl; Lowell E. Sever



Marfan's syndrome: an overview.  


Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

Yuan, Shi-Min; Jing, Hua



Ethical Aspects of Prenatal Diagnosis of Fetal Malformations  

PubMed Central

Fetal malformations complicate approximately 3% of all pregnancies. Many of these are minor or can be corrected after birth, but there are certain malformations that are lethal and others that are severe and others, that, even if corrected lead to permanent disability. Advances in prenatal diagnosis made possible the diagnosis of many fetal malformations. This led to the concept of the fetus a patient, independent of the pregnant woman, even though the moral status of the fetus is in dispute. Many of the lethal malformations are untreatable. However, for some, innovative in utero treatments, both medical and surgical, became possible. These interventions should be evaluated for the relative benefit and risk for both the fetus and the mother, because any such treatment has to involve the integrity of her body. This raises the ethical question of beneficence (to the fetus) versus the autonomy of the pregnant woman. The process of resolving this issue will be discussed, especially how to obtain a truly informed consent. For the lethal malformations or for those severe or multiple malformations whose treatment is theoretically possible but the results of such treatment are unpredictable or may lead to life long disabilities and serious burdens for the infant or child and the family, prenatal counseling should include “prenatal advance directive” and a plan for palliative care, the components of which will be described.

Fadel, Hossam E.



Giant Cystic Cerebral Cavernous Malformation with Multiple Calcification - Case Report  

PubMed Central

Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review.

Kim, Il-Chun; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo



Giant cystic cerebral cavernous malformation with multiple calcification - case report.  


Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

Kim, Il-Chun; Kwon, Ki-Young; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo



Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research.

Sower, S A; Reed, K L; Babbitt, K J



Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome  

Microsoft Academic Search

Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the non-receptor protein tyrosine phosphatase SHP-2, which is an important molecule in several intracellular signal transduction pathways that control diverse developmental processes,

Luciana Musante; Hans G Kehl; Frank Majewski; Peter Meinecke; Susann Schweiger; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Georg K Hinkel; Sigrid Tinschert; Maria Hoeltzenbein; Hans-Hilger Ropers; Vera M Kalscheuer



Partial "targeted" embolisation of brain arteriovenous malformations  

PubMed Central

The treatment of pial arteriovenous brain malformations is controversial. Little is yet known about their natural history, their pathomechanisms and the efficacy and risks of respective proposed treatments. It is known that only complete occlusion of the AVM can exclude future risk of haemorrhage and that the rates of curative embolisation of AVMs with an acceptable periprocedural risk are around 20 to 50%. As outlined in the present article, however, partial, targeted embolisation also plays a role. In acutely ruptured AVMs where the source of bleeding can be identified, targeted embolisation of this compartment may be able to secure the AVM prior to definitive treatment. In unruptured symptomatic AVMs targeted treatment may be employed if a defined pathomechanism can be identified that is related to the clinical symptoms and that can be cured with an acceptable risk via an endovascular approach depending on the individual AVM angioarchitecture. This review article gives examples of pathomechanisms and angioarchitectures that are amenable to this kind of treatment strategy.

Hans, Franz-Josef; Geibprasert, Sasikhan; Terbrugge, Karel



Partial tetrasomy 14 associated with multiple malformations.  


We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. PMID:23613323

Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt-Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter



Hypofractionated stereotactic radiotherapy for large arteriovenous malformations  

PubMed Central

Cerebral arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins, with possible serious consequences of intracranial hemorrhage. The curative treatment for AVMs includes microsurgery and radiosurgery, sometimes with embolization as an adjunct. However, controversies exist with the treatment options available for large to giant AVMs. Hypofractionated stereotactic radiotherapy (HSRT) is one treatment option for such difficult lesions. We aim to review recent literature, looking at the treatment outcome of HSRT in terms of AVM obliteration rate and complications. The rate of AVM obliteration utilizing HSRT as a primary treatment was comparable with that of stereotactic radiosurgery (SRS). For those not totally obliterated, HSRT makes them smaller and turns some lesions manageable by single-dose SRS or microsurgery. Higher doses per fraction seemed to exhibit better response. However, patients receiving higher total dose may be at risk for higher rates of complications. Fractionated regimens of 7 Gy × 4 and 6–6.5 Gy × 5 may be accepted compromises between obliteration and complication. Embolization may not be beneficial prior to HSRT in terms of obliteration rate or the volume reduction. Future work should aim on a prospectively designed study for larger patient groups and long-term follow-up results.

Wang, Huan-Chih; Chang, Rachel J.; Xiao, Furen



De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation.  


Anorectal malformations (ARM) encompass a broad clinical spectrum which ranges from mild anal stenosis to severe anorectal anomalies such as complex cloacal malformations. The overall incidence of ARM is around 1 in every 2,500 live births. Although causative genes for a few syndromic forms have been identified, the molecular genetic background of most ARM remains unknown. The present report describes a patient with a de novo 13.2-Mb deletion of chromosome 18q22.3-qter and a 2.2-Mb de novo duplication of chromosomal region 18pter-p11.32 located at the telomeric end of chromosome 18q. The patient presented with ARM and the typical features of 18q- syndrome (De-Grouchy syndrome). The combination of a partial duplication of the short arm and a partial deletion of the long arm of chromosome 18 has been described in 16 previous cases. However, this is the first report of an association between this complex chromosomal rearrangement and ARM. PMID:21709416

Bartels, E; Draaken, M; Kazmierczak, B; Spranger, S; Schramm, C; Baudisch, F; Nöthen, M M; Schmiedeke, E; Ludwig, M; Reutter, H



Methodological review of ventricular anatomy--the basis for understanding congenital cardiac malformations.  


The ventricular mass extends from the atrioventricular to the ventriculo-arterial junctions. The junctions are obvious anatomic entities and provide discrete boundaries for the ventricles, which can then be subdivided into inlet, apical, and outlet components. The apical trabecular components are most constantly present when hearts are congenitally malformed. Abnormal ventricles, such as found in such congenitally malformed hearts, can be analysed according to the way in which the inlet and outlet components are shared between these apical components. The interrelationships of the right and left ventricles permit distinction of two specific patterns, which are mirror images of one another and which can be described in terms of right-handed and left-handed ventricular topology. It is exceedingly rare to find truly solitary ventricles. The conduction tissues are the only parts of the ventricular walls that are insulated within the working myocardial mass. Anomalous accessory muscular connections are the substrate for the Wolff-Parkinson-White syndrome. This article is part of a JCTR special issue on Cardiac Anatomy. PMID:23225359

Spicer, Diane E; Anderson, Robert H



Ambient Air Pollution and Cardiovascular Malformations in Atlanta, Georgia, 1986-2003  

PubMed Central

Associations between ambient air pollution levels during weeks 3–7 of pregnancy and risks of cardiovascular malformations were investigated among the cohort of pregnancies reaching at least 20 weeks’ gestation that were conceived during January 1, 1986–March 12, 2003, in Atlanta, Georgia. Surveillance records obtained from the Metropolitan Atlanta Congenital Defects Program, which conducts active, population-based surveillance on this cohort, were reviewed to classify cardiovascular malformations. Ambient 8-hour maximum ozone and 24-hour average carbon monoxide, nitrogen dioxide, particulate matter with an average aerodynamic diameter of <10 ?m (PM10), and sulfur dioxide measurements were obtained from centrally located stationary monitors. Temporal associations between these pollutants and daily risks of secundum atrial septal defect, aortic coarctation, hypoplastic left heart syndrome, patent ductus arteriosus, valvar pulmonary stenosis, tetralogy of Fallot, transposition of the great arteries, muscular ventricular septal defect, perimembranous ventricular septal defect, conotruncal defects, left ventricular outflow tract defect, and right ventricular outflow defect were modeled by using Poisson generalized linear models. A statistically significant association was observed between PM10 and patent ductus arteriosus (for an interquartile range increase in PM10 levels, risk ratio?=?1.60, 95% confidence interval: 1.11, 2.31). Of the 60 associations examined in the primary analysis, no other significant associations were observed.

Klein, Mitchel; Correa, Adolfo; Reller, Mark D.; Mahle, William T.; Riehle-Colarusso, Tiffany J.; Botto, Lorenzo D.; Flanders, W. Dana; Mulholland, James A.; Siffel, Csaba; Marcus, Michele; Tolbert, Paige E.



Kousseff syndrome: A fifth case?  

SciTech Connect

Kousseff originally described three siblings with an open sacral myelomeningocele, conotruncal cardiac malformations, low-set, posteriorly rotated ears, retrognathia, a short neck with a low posterior hairline, and renal agenesis as a new autosomal recessive condition. Open neural tube lesions and complex conotruncal cardiac defects are relatively common malformations, both as isolated defects and individually as components of syndromes, but they have been found together only rarely, as part of chromosomal syndromes or following maternal exposures. Toriello et al. reported a fourth case and suggested the eponym Kousseff syndrome for myelomeningcocele, conotruncal defects and minor facial abnormalies. We report a fifth probable case. This male infant was born by spontaneous vaginal delivery at 38 weeks gestation to a 23-year-old G{sub 2}P{sub 1001} mother. Pregnancy was complicated by an elevated alpha-fetoprotein at 16 weeks gestation, followed by an ultrasound diagnosis of an open disease. After birth, physical examination also revealed dysmorphic facies, with a bulbous nose and low-set, posteriorly rotated ears, bilateral 5th finger clinodactyly and hypotonia. Echocardiogram demonstrated complex conotruncal malformations. The patient underwent closure of the myelomeningocele but died at one month of age. Chromosomal analysis was normal (46,XY). Because conotruncal heart defects have been associated with deletions on chromosome 22, FISH analysis using a probe for the DiGeorge syndrome on the long arm of chromosome 22 was performed. It indicated no detectable deletion within this critical region on 22q11. Nonetheless there remains the possibility of a gene (or genes) located on 22q that could produce findings of this rare multiple congenital anomaly syndrome when disrupted. Therefore, further investigation on this chromosome is warranted.

Laux, R.A. [Foundation for Blood Research, Portland, ME (United States); Hamilton, W.; Pinette, M. [Maine Medical Center, Portland, ME (United States)] [and others



Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.  


Developmental anomalies of the appendicular skeleton are among the most common and easily ascertained birth defects. Split hand/split foot malformations, distinctive in having deficiency of the central rays, occur as isolated anomalies and as one component of multisystem syndromes. The clinical and molecular characterization of a new syndrome, found in two unrelated families, consisting of split foot with hearing loss, is presented here. As in other split hand/split foot conditions, variable expression and reduced penetrance is notable. In the larger family, variably expressed split foot malformations were found in 6 of 11 gene carriers. and mild-to-moderate sensorineural hearing loss in 4. Split hand and cleft lip/palate in one individual and tibial deficiency in another suggest that these malformations are uncommon components of the syndrome. Ectodermal abnormalities did not occur. In the second family, variable split foot was observed in 3 of 4 gene carriers, and sensorineural deafness was present in 3. Split hand was only seen in a gene carrier who also had split foot and deafness. One gene carrier only had deafness. The gene for split hand split foot with sensorineural hearing loss was linked to markers in 7q21 in both families, with a combined (maximum LOD score of 4.37 at theta = 0.0 for locus D7S527) at 80% penetrance. Efforts to identify the responsible gene have not yet been successful. PMID:11168022

Tackels-Horne, D; Toburen, A; Sangiorgi, E; Gurrieri, F; de Mollerat, X; Fischetto, R; Causio, F; Clarkson, K; Stevenson, R E; Schwartz, C E



Fryns syndrome phenotype and trisomy 22  

SciTech Connect

Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns Syndrome: Diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy 22. This case demonstrates the importance of karyotyping malformed fetuses or newborns, even if a nonchromosome syndrome seems identifiable on clinical grounds. To date, at least 10 cases of Fryns syndrome have been reported without chromosome analysis. 32 refs., 2 figs.

Ladonne, J.M.; Gaillard, D.; Carre-Pigeon, F.; Gabriel, R. [INSERM, Reims (France)



Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.  


We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan. © 2013 Wiley Periodicals, Inc. PMID:24115638

Gurrieri, Fiorella; Everman, David B



Section of the filum terminale: is it worthwhile in Chiari type I malformation?  


A section of the filum terminale (SFT) is used for the surgical treatment of isolated tethered cord or that resulting from neurulation disorders. More recently, it has been proposed for the management of the occult tethered cord syndrome (OTCS), though it is still under debate. Even more controversial appears to be the use of SFT in patients with Chiari type I malformation (CIM), which is based on the possible presence of OTCS. This review shows that: (1) there are issues both in favor and against the occurrence of OTCS, (2) there is no significant correlation between CIM and tethered cord, the old "caudal traction theory" being not supported by clinical or experimental evidences. On these grounds, a relationship between CIM and OTCS is hard to be demonstrated, (3) a subgroup of patients with CIM suffering from OTCS may exist and benefit from SFT. PMID:21800080

Massimi, Luca; Peraio, Simone; Peppucci, Elisabetta; Tamburrini, Gianpiero; Di Rocco, Concezio



The Hospital Incidence and Clinical Significance of Congenital Heart Malformations Resulting from Rubella Embryopathy  

PubMed Central

A retrospective study is reported of 75 children with rubella embryopathy syndrome, admitted to the Health Centre for Children, Vancouver General Hospital, during the four-year period from July 1, 1964 to July 1, 1968. Sixty-four of the 75 had cardiovascular malformations, 37 had ophthalmological defects, 31 had nerve deafness and three were mentally retarded. The most common cardiovascular defects were patent ductus arteriosus (36 patients), ventricular septal defect (22 patients) and pulmonary valvular stenosis (17 patients). Ninety-three per cent of the mothers had a history of exposure to rubella during their first trimester. The administration of gamma globulin to mothers exposed to rubella did not prevent fetal damage. Although this group of patients accounted for only 6% of children requiring open-heart surgery, it did account for 27% of the children having closed-heart surgical procedures and 10% of the case load of the cardiac catheterization laboratory.

Vince, Dennis J.



Multistaged volumetric management of large arteriovenous malformations.  


We sought to define the long-term outcomes and risks of arteriovenous malformation (AVM) management using 2 or more stages of stereotactic radiosurgery (SRS) for symptomatic large-volume AVMs unsuitable for surgery. Two decades ago, we prospectively began to stage anatomical components in order to deliver higher single doses to AVMs>10 cm3 in volume. Forty-seven patients with large AVMs underwent volume-staged SRS. The median interval between the two SRS procedures was 4.9 months (range, 3-14 months). The median nidus volume was 11.5 cm3 (range, 4.0-26 cm3) in the first stage of SRS and 9.5 cm3 in the second. The median margin dose was 16 Gy (range, 13-18 Gy) for both SRS stages. The actuarial rates of total obliteration after 2-staged SRS were 7, 20, 28 and 36% at 3, 4, 5 and 10 years, respectively. Sixteen patients needed additional SRS at a median interval of 61 months (range, 33-113 months) after the 2-staged SRS. After repeat procedure(s), the eventual obliteration rate was 66% at 10 years. The cumulative rates of AVM hemorrhage after SRS were 4.3, 8.6, 13.5 and 36.0% at 1, 2, 5 and 10 years, respectively. Symptomatic adverse radiation effects were detected in 13% of patients. Successful prospective volume-staged SRS for large AVMs unsuitable for surgery requires 2 or more procedures to complete the obliteration process. Patients remain at risk for hemorrhage if the AVM persists. PMID:23258511

Kano, Hideyuki; Kondziolka, Douglas; Flickinger, John C; Park, Kyung-Jae; Parry, Phillip V; Yang, Huai-che; Sirin, Sait; Niranjan, Ajay; Novotny, Josef; Lunsford, L Dade



Epidemiology and natural history of arteriovenous malformations.  


The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233

Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S



Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.  


Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes. PMID:9742573

Lalatta, F; Salmona, S; Fogliani, R; Rizzuti, T; Nicolini, U



Development of a fetal rabbit model to study amniotic band syndrome.  


Amniotic band syndrome (ABS) is a group of fetal malformations caused by fibrous adherences. Species such as sheep, rats, and mice have been used to study this syndrome. We developed a fetal rabbit model using 24 fetuses from punctured uteri. We found one case of syndactyly, one case of amniotic banding, two cases of extremity deformities, one case of a tail deformity, one case of head compression, and one case of open eyelids. Other malformations have been described in an amnion rupture sequence model (exencephaly and cleft palate). The rabbit fetus is an adequate model in which to develop this syndrome. PMID:22432900

Galvan, Alfonso; Alvarez, Elizabeth; Parraguirre, Sara; Suarez, Ma Lourdes; Perez, Araceli



Sturge-Weber syndrome.  


Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome defined by the association of a facial capillary malformation in the ophthalmic distribution of the trigeminal nerve, with ipsilateral vascular glaucoma and vascular malformation of the eye, and a leptomeningeal angioma. SWS is suspected at birth in the presence of facial angioma in the trigeminal nerve area. MRI with gadolinium enhancement and pondered T1, T2, FLAIR and diffusion sequences is today the technique of choice to visualize the leptomeningeal angioma or to suspect it by indirect signs, even before the development of neurological signs, from the first months of life. The prognosis of SWS with leptomeningeal angioma is related to the severity of neurological signs that are absent at birth and develop later in life (epilepsy, hemiparesis, and mental delay). Seizures are usually the presenting neurological symptom. Status epilepticus might inaugurate the epilepsy and remains frequent in infancy. Repetitive seizures are thought to increase the atrophy of brain tissue in regard to the leptomeningeal angioma. Preventive presymptomatic treatment with antiepileptic drugs is often recommended, and parents are trained to use rescue benzodiazepines in case of seizures. After epilepsy onset, in patients intractable to antiepileptic drugs, surgery should be considered. PMID:23622182

Nabbout, R; Juhász, C



Neuropathological analysis of an adult case of the Cornelia de Lange syndrome  

Microsoft Academic Search

Cornelia de Lange syndrome (CDLS) is a rare multisystemic malformative syndrome of uncertain etiology characterized by severe psychomotor and mental retardation. Here we report the neuropathological analysis of a 35-year-old patient who displayed the classical clinical symptomatology of CDLS. A congenital dysgenesis of the brain was evident including abnormal convolution patterns of the cerebral gyri, frontal lobe hypoplasia and focal

Nicolas Vuilleumier; Enikö Kövari; Agnès Michon; Patrick R. Hof; Georges Mentenopoulos; Panteleimon Giannakopoulos; Constantin Bouras



Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature  

PubMed Central

Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature.

Parelkar, Sandesh V.; Kapadnis, Satish P.; Sanghvi, Beejal V.; Joshi, Prashant B.; Mundada, Dinesh; Oak, Sanjay N.



Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome  

Microsoft Academic Search

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

J F Mattei; M G Mattei; J Coignet; F Giraud



“One More for My Baby”: Foetal Alcohol Syndrome and its Implications for Social Workers  

Microsoft Academic Search

Foetal alcohol syndrome has been described as the commonest preventable cause of mental retardation in the Western world. It refers to a pattern of malformations, growth retardation and central nervous system impairments found in children of mothers who drink large amounts of alcohol while they are pregnant. This paper describes the nature of foetal alcohol syndrome and the related condition

Wendy Cousins; Karen Wells



Anesthetic management of an infant with Joubert syndrome for cardiac surgery.  


The anesthetic implications of Joubert syndrome in an infant who required cardiac surgery using cardiopulmonary bypass (CPB) is presented. Children with Joubert syndrome present with central apnea due to malformations in the midbrain and cerebellum. These patients have a marked sensitivity to opioids. The use of dexmedetomidine along with remifentanil was effective in this case. PMID:23965207

Bhaskar, Pradeep; John, Jiju; Sivamurthy, Suresh K; Lone, Reyaz A; Tysarowski, Pawel A; Riyas, Mohammed K; Syed, Syed A; Bhat, Akhlaque N; Sallehuddin, Ahmed



A study of new potential risk factors for Down syndrome in Upper Egypt  

Microsoft Academic Search

Down syndrome is a common chromosomal anomaly causing multiple congenital malformations and mental retardation (MR) in humans. The well-established risk factor, advanced maternal age, was not found in many of the Down syndrome cases in Egypt, while other possible risk factors have not been well studied yet. In view of this, we have conducted the present study to clarify that

Hatem M. A. Shalaby



Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene,

Stephen J. Ansley; Jose L. Badano; Oliver E. Blacque; Josephine Hill; Bethan E. Hoskins; Carmen C. Leitch; Jun Chul Kim; Alison J. Ross; Erica R. Eichers; Tanya M. Teslovich; Allan K. Mah; Robert C. Johnsen; John C. Cavender; Richard Alan Lewis; Michel R. Leroux; Philip L. Beales; Nicholas Katsanis



Kabuki syndrome revisited.  


Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32?000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed. PMID:22437206

Bokinni, Yemisi



Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion\\/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)  

Microsoft Academic Search

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly

L. Garavelli; P. Cerruti-Mainardi; R. Virdis; S. Pedori; G. Pastore; M. Godi; S. Provera; A. Rauch; C. Zweier; M. Zollino; G. Banchini; N. Longo; D. Mowat; G. Neri; S. Bernasconi



Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)  

Microsoft Academic Search

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome refers to the congenital absence or severe hypoplasia of the female genital tract, often described as uterovaginal aplasia which is the prime feature of the syndrome. It is the second cause of primary amenorrhea after gonadal dysgenesis and occurs in ~1 in 4500 women. Aetiology of this syndrome remains poorly understood. Frequent association of other malformations

Agnès Burel; Thomas Mouchel; Sylvie Odent; Filiz Tiker; Bertrand Knebelmann; Isabelle Pellerin; Daniel Guerrier



Altered Intrinsic Properties of Neuronal Subtypes in Malformed Epileptogenic Cortex  

PubMed Central

Neuronal intrinsic properties control action potential firing rates and serve to define particular neuronal subtypes. Changes in intrinsic properties have previously been shown to contribute to hyperexcitability in a number of epilepsy models. Here we examined whether a developmental insult producing the cortical malformation of microgyria altered the identity or firing properties of layer V pyramidal neurons and two interneuron subtypes. Trains of action potentials were elicited with a series of current injection steps during whole cell patch clamp recordings. Cells in malformed cortex identified as having an apical dendrite had firing patterns similar to control pyramidal neurons. The duration of the second action potential in the train was increased in paramicrogyral (PMG) pyramidal cells, suggesting that these cells may be in an immature state, as was previously found for layer II/III pyramidal neurons. Based on stereotypical firing patterns and other intrinsic properties, fast-spiking (FS) and low threshold-spiking (LTS) interneuron subpopulations were clearly identified in both control and malformed cortex. Most intrinsic properties measured in malformed cortex were unchanged, suggesting that subtype identity is maintained. However, LTS interneurons in lesioned cortex had increased maximum firing frequency, decreased initial afterhyperpolarization duration, and increased total adaptation ratio compared to control LTS cells. FS interneurons demonstrated decreased maximum firing frequencies in malformed cortex compared to control FS cells. These changes may increase the efficacy of LTS while decreasing the effectiveness of FS interneurons. These data indicate that differential alterations of individual neuronal subpopulations may endow them with specific characteristics that promote epileptogenesis.

George, Amanda L.; Jacobs, Kimberle M.



Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome  

Microsoft Academic Search

Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing ?-transducin like repeats, now known as LIS1, was previously mapped to the ILS\\/MDS chromosome region on

Cristiana Lo Nigro; Samuel S. Chong; Ann C. M. Smith; William B. Dobyns; Romeo Carrozzo; David H. Ledbetter



Cranial malformations in related white lions (Panthera leo krugeri).  


White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844

Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E



Fatal Cardiovascular Collapse During Ethanol Sclerotherapy of a Venous Malformation  

PubMed Central

Summary We report a case of fatal cardiovascular collapse that occurred during Ethanol sclerotherapy of a venous malformation in a 21-year-old woman. The malformation was located on the anterior part of the thigh. Fifty ml of a mixture of Ethanol, Ethibloc and Lipiodol containing 35 ml of Ethanol (0.52 ml / kg) were injected under fluoroscopy. A major drop in arterial pressure was recorded after release of the tourniquet placed at the thigh root. The patient died after four hours of intensive cardiac reanimation. Her blood alcohol level was 0.4 g/l one hour after the end of the intervention. The cardiac toxicity of ethanol depends more on the potential acute venous contamination than on the blood alcohol concentration. The currently admitted “safety limit” of 1 ml/kg of bodyweight for ethanol sclerotherapy of venous malformations is certainly unsafe and must be redefined.

Chapot, R.; Laurent, A.; Enjolras, O.; Payen, D.; Houdart, E.



Chiari-I malformation associated with asymmetric sensorineural hearing loss.  


Chiari-I malformation is a deformity of the structures of the posterior fossa in which there is inferior herniation of the cerebellar tonsils through the foramen magnum without significant caudal dislocation of the brainstem. Patients are usually asymptomatic until adulthood, when they commonly present with recurrent headaches, weakness, vertigo and/or imbalance, nystagmus and hearing loss. A review of 226 consecutive patients evaluated for asymmetric sensorineural hearing loss revealed 32 patients with retrocochlear pathology. Three of these patients were discovered to have a Chiari-I malformation by magnetic resonance imaging as their only pathology. We suggest a possible association between a Chiari-I malformation and isolated asymmetric sensorineural hearing loss secondary to long-standing traction on the eighth cranial nerve. PMID:1583702

Hendrix, R A; Bacon, C K; Sclafani, A P



Basic genetic principles applied to posterior fossa malformations.  


Recent advances in neuroimaging techniques turned possible for neuroradiologists to be frequently the first one to detect possible brain structural anomalies. However, with all the recent advances in genetics and embryology, understanding posterior fossa malformation's principles is being hardest to be achieved than previously. Studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding candidate genes involved in disrupted developmental processes. The main focus of this review was to survey the basic principles of the rhombomere division, anteroposterior and dorsoventral patterning, alar and basal zone concept, and axonal path finding to integrate the knowledge of human hindbrain malformations for better understanding the genetic basis of hindbrain development. PMID:24132065

Nunes, Renato Hoffmann; Littig, Ingrid Aguiar; da Rocha, Antonio Jose; Vedolin, Leonardo



Syndrome de Poland : série clinique de reconstructions thoraco-mammaires. À propos de 27 patients opérés  

Microsoft Academic Search

The authors evaluate the quality of thoraco-mammary reconstructions in Poland’s syndrome. There was 34 patients in our serie, and 27 were operating between 1982 and 2001. There was 19 women and 8 men ; the mean age was 19 years (9–40 years). Because of the clinical variability, the authors propose a classification of the malformation’s importance in 3 degrees. In

L Foucras; J. L Grolleau-Raoux; J. P Chavoin



Neurosurgical vascular malformations in children under 1 year of age  

Microsoft Academic Search

Purpose  This study aims to analyze the clinical and radiological findings, timing and type of treatment, and outcome in children under\\u000a 1 year of age that presented with neurosurgical vascular malformations.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  A retrospective review of 23 children under 1 year of age with neurosurgical vascular malformations was performed at a single\\u000a institution between 1999 and 2009.\\u000a \\u000a \\u000a \\u000a \\u000a Results  The lesions found in this age group

Graciela Zuccaro; Romina Argañaraz; Francisco Villasante; Alejandro Ceciliano



Hydrosalpinx in a patient with complex genitourinary malformation.  


We describe an adolescent female patient born with a complex genitourinary malformation including bilateral duplex system and duplication of the müllerian structures (bicornuate uterus and septate vagina). She presented with a symptomatic hydrosalpinx. The typical imaging of this condition is described along with the issues associated with the differential diagnosis in this complex scenario. The diagnosis of hydrosaplinx should be suspected in patients with complex genitourinary malformations and a pelvic fluid collection. Associated genital and renal anomalies are noted in 30% of cases. PMID:21034959

Zhapa, Evisa; Rigamonti, Waifro; Castagnetti, Marco



Diffusion tensor imaging and fiber tractography in brain malformations.  


Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized. PMID:23288476

Poretti, Andrea; Meoded, Avner; Rossi, Andrea; Raybaud, Charles; Huisman, Thierry A G M



Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)  

Microsoft Academic Search

ObjectiveTo identify genetic causes of COACH syndromeBackgroundCOACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay\\/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrain malformation called the molar tooth sign (MTS), making COACH a Joubert syndrome related disorder (JSRD).MethodsIn a cohort of 251 families with JSRD, 26

D. Doherty; M. A. Parisi; L. S. Finn; M. Gunay-Aygun; M. Al-Mateen; D. Bates; C. Clericuzio; H. Demir; M. Dorschner; A. J. van Essen; W. A. Gahl; M. Gentile; N. T. Gorden; A. Hikida; D. Knutzen; H Özyurek; I. Phelps; P. Rosenthal; A. Verloes; H. Weigand; P. F. Chance; W. B. Dobyns; I. A. Glass



Richieri-costa and Pereira syndrome: severe phenotype.  


Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported. PMID:23794199

Raskin, Salmo; Souza, Marcela; Medeiros, Mariana C; Manfron, Mayra; Chong E Silva, Debora C



Craniocervical CT and MR Imaging of Schwartz-Jampel Syndrome  

Microsoft Academic Search

Summary: Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syn- drome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mas- toids with intramastoid dural sinuses, platyspondyly, bul- bous zygoma, and blunted pterygoid processes. Osteochondromuscular dystrophy or Schwartz-

Sarah S. Samimi; Walter S. Lesley


On the paternal origin of trisomy 21 Down syndrome  

Microsoft Academic Search

BACKGROUND: Down syndrome (DS), characterized by an extra free chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 originates from the mother in more than 90% of cases, the incidence increases with maternal age and there is a high recurrence in young women. In a previous

Maj A Hultén; Suketu D Patel; Magnus Westgren; Nikos Papadogiannakis; Anna Maria Jonsson; Jon Jonasson; Erik Iwarsson



Scheie syndrome  


... also: MPS I H (Hurler syndrome) MPS II, Hunter syndrome MPS IV Morquio syndrome MPS III (Sanfilippo ... syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive ...


A rare cause of dyspnoea: the LEOPARD syndrome.  


The LEOPARD syndrome is a rare hereditary disorder in Asian countries. This syndrome involves complex malformations and other features. Though the LEOPARD syndrome is rare, diagnosis is important since it can be related with serious cardiac ailments. Patients must be followed up regularly in order to reduce the risk of sudden death which is the most severe complication. The study presents the case of a 23-year-old woman who had dyspnoea on daily exercises. She had multiple lentigines, cardiac anomalies (apical hypertrophic cardiomyopathy, left ventricular hypertrophy and pulmonary stenosis), ocular hypertelorism and abnormal electrocardiographic findings. Based on the findings, the patient was diagnosed with the LEOPARD syndrome. PMID:23905457

Demir, Serafettin; Karakaya, Zeynep; Sagay, Serkan



Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.  


Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients. PMID:22353298

Sarici, Dilek; Akin, Mustafa Ali; Kara, Ahu; Doganay, Selim; Kurtoglu, Selim



Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis  

Microsoft Academic Search

.  ?There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished\\u000a by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired\\u000a psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with\\u000a multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations

Douglas M. Silverstein; Leon Zacharowicz; Morris Edelman; Sunhee C. Lee; Ira Greifer; Isabelle Rapin



Ocular anomalies in an infant with Klinefelter Syndrome.  


Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported. Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils. PMID:22486321

Juhn, Alexander T; Nabi, Naeem U; Levin, Alex V



Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans  

ERIC Educational Resources Information Center

|A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found…

ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin



Changing role for preoperative embolisation in the management of arteriovenous malformations of the brain  

Microsoft Academic Search

Background: The aim of this study was to analyse the results of the use of preoperative embolisation in the management of arteriovenous malformations of the brain at one institution between 1989 and 1999.Methods : Two hundred and fifty consecutive cases of angiographically confirmed arteriovenous malformations underwent surgery by one surgeon. Cases of dural or spinal arteriovenous malformations have been excluded.

M. K. Morgan; A. A. R. Zurin; T. Harrington; N. Little



Amniotic band syndrome: a case report.  


Amniotic band syndrome is an uncommon congenital pathological condition that may lead to malformations and foetal-infant death. We report an autoptic case. The patient was a male preterm infant. At 14 weeks of gestation, a routine ultrasonography showed severe craniofacial anomalies and a close contiguity of the foetal head with the amnios. The neonate survived three days, after which an autopsy was carried out. The infant had a frontoparietal meningoencephalocele; a fibrous band was attached to the skin, close to the meningoencephalocele base. Cleft lip and palate, nose deformation and agenesis of the right eye were also present. At the opening of the cranial cavity, occipital hyperostosis was observed. The herniated brain showed anatomical abnormalities that made identification of normal structures difficult. Microscopically, the nervous parenchyma had architectural disorganization and immaturity, and the fibrous band consisted of amniotic membranes. As evident from this case report, amniotic band syndrome may cause severe malformations and foetal-infant death. PMID:21837919

Buccoliero, A M; Castiglione, F; Garbini, F; Moncini, D; Lapi, E; Agostini, E; Fiorini, P; Taddei, G L



Surgical Management of Chiari Malformation: Analysis of 128 Cases  

Microsoft Academic Search

Objective: A variety of surgical interventions have been recommended for patients with Chiari malformations (CMs). In this study, we have evaluated the intraoperative findings and clinical outcome in different-aged patients with CMs undergoing posterior fossa decompression. Methods: Sixteen pediatric and 112 adult cases with CMs underwent suboccipital craniectomy and wide duraplasty as well as autogenous bone grafting in selected cases.

Fuyou Guo; Meiyun Wang; Jiang Long; Huaili Wang; Hongwei Sun; Bo Yang; Laijun Song



Clinical implications of uterine malformations and hysteroscopic treatment results  

Microsoft Academic Search

Uterine malformations consist of a group of miscellaneous congenital anomalies of the female genital system. Their mean prevalence in the general population and in the population of fertile women is ~4.3%, in infertile patients ~3.5% and in patients with recurrent pregnancy losses ~13%. Septate uterus is the commonest uterine anomaly with a mean incidence of ~35% followed by bicornuate uterus

Grigoris F. Grimbizis; Michel Camus; Basil C. Tarlatzis; John N. Bontis; Paul Devroey


Spinal vascular malformations--typical and atypical findings.  


Vascular malformations of the spinal cord and its meninges are rare diseases which comprise true inborn cavernomas and arteriovenous malformations (AVM), including perimedullary fistulae, glomerular and juvenile AVMs, and presumably acquired dural arteriovenous fistulae. This article gives an overview of the imaging features on magnetic resonance imaging (MRI) and digital subtraction angiography of both typical and atypical findings to describe the wide variety of possible pathological entities encountered. Clinical differential diagnoses, the neurological symptomatology and potential therapeutic approaches of these diseases, which may vary depending on the underlying pathology, are given. Although MRI constitutes the first choice diagnostic modality for suspected spinal vascular malformations, we conclude that the definite diagnosis of the disease and thus the choice of the appropriate therapeutic approach rests on selective spinal angiography which should be performed at a specialized center. Treatment in symptomatic patients offers an improvement in prognosis. Microsurgical treatment is recommended for symptomatic spinal cord cavernomas. Dural arteriovenous shunts can either be treated by microsurgical or endovascular approaches, the former being a simple, quick and secure approach to obliterate the fistula while the latter is technically demanding. In spinal arteriovenous malformations of both the fistulous and the glomerular type, the endovascular approach is the method of first choice; in selected cases, surgery or a combined therapy may be necessary. PMID:17966075

Bostroem, A; Thron, A; Hans, F J; Krings, T



Thalidomide-induced limb malformations — a prosthetic review  

Microsoft Academic Search

The embryopathy-producing drug 'thalidomide' resulted in an estimated 349 babies born in the UKwith congenital malformations during the period 1959-62. All known affected babies were registered, and a 'Thalidomide Society and Trust' was formed to administer the financial settlements offered by the manufacturers of the drug and the British Government. Individual prosthetic centres found great difficulty at the time in

Nabil M Mustapha



Mathematical Models for Tubular Malformations during Virus Assembly of Papovaviridae  

Microsoft Academic Search

An important stage of the viral life cycle is the formation of a protein shell, called the viral capsid, that protects the viral genome. While the viral capsids of infectious virus particles correspond to closed shells, there also occur tubular open structures during assembly as non-infectious malformations. In (1, 2) viral tiling theory (VT-theory) has been introduced as a new



Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

|Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive…

Bolduc, Marie-Eve; Limperopoulos, Catherine



Proximity to pollution sources and risk of amphibian limb malformation.  


The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M



The tethered spinal cord in patients with anorectal malformations  

Microsoft Academic Search

The aims of this study were to find the prevalence of tethered cord in patients with anorectal malformations; to determine if the presence of tethered cord relates to the severity of the anorectal defect, and to certain symptoms, signs, radiologic findings, and associated anomalies; and finally to determine whether tethered cord impacted on a patient's functional prognosis and whether surgical

Marc A Levitt; Mahendra Patel; George Rodriguez; Daniel S Gaylin; Alberto Peña



Clival dysgenesis associated with Chiari Type 1 malformation and syringomyelia  

Microsoft Academic Search

We report an 11-year-old boy with dysgenesis of the clivus. The boy presented complaining of progressive difficulty in walking. The clival anomaly was associated with severe basilar invagination, Chiari Type 1 malformation and syringomyelia. Our literature search did not reveal any previous reports of this combination of conditions. The patient obtained relief from his symptoms following a foramen magnum decompression.

Abhidha Shah; Atul Goel



Presentation and Management of Chiari I Malformation in Children  

Microsoft Academic Search

To determine the efficacy of operative treatment for children with Chiari I malformation, the medical records and magnetic resonance imaging (MRI) studies of 68 consecutive patients cared for at The Children’s Hospital, Boston, Mass., USA, from December, 1988 to November, 1996 were retrospectively reviewed. All patients underwent suboccipital craniectomy, Cl laminectomy, and dural grafting. Bipolar coagulation to shrink and reduce

John K. Park; P. Langham Gleason; Joseph R. Madsen; Liliana C. Goumnerova; Michael Scott



Prenatal exposure to thalidomide, altered vasculogenesis, and CNS malformations  

Microsoft Academic Search

Malformations of cortical development (MCD) result from abnormal neuronal positioning during corticogenesis. MCD are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to autism and epilepsy. In view of the fact that during development, an appropriate blood supply is necessary to drive organogenesis in other organs, we hypothesized that vasculogenesis plays

K. L. Hallene; E. Oby; B. J. Lee; S. Santaguida; S. Bassanini; M. Cipolla; N. Marchi; M. Hossain; G. Battaglia; D. Janigro



Occurrence of Split Cord Malformation in Meningomyelocele: Complex Spina bifida  

Microsoft Academic Search

Objective: To describe the clinical features and surgical outcome of a combined anomaly, i.e. split cord malformation (SCM) with meningomyelocele (MMC), and to propose an addition to Pang’s classification of SCM to accommodate a combined form of anomaly. Methods: We retrospectively analyzed 16 cases of such a combination, out of a total of 106 cases of spinal dysraphism treated and

Raj Kumar; Krishan Kumar Bansal; Devendra Kumar Chhabra



Management of the fetus with a cystic adenomatoid malformation  

Microsoft Academic Search

Prenatal detection and serial sonographic study of fetuses with congenital cystic adenomatoid malformation (CCAM) now makes it possible to define the natural history of this lesion, determine the pathophysiologic features that affect clinical outcome, and formulate management based on prognosis. In a series of 22 prenatally diagnosed cases, the overall prognosis depended on the effects of the lung mass and

N. Scott Adzick; Michael R. Harrison



Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J. [Eastbourne District General Hospital, Department of Radiology (United Kingdom)], E-mail:



Aplasia cutis congenita associated with an immature arteriovenous malformation  

Microsoft Academic Search

The first case of congenital defect of the skull and scalp in Japan, probably due to an immature arteriovenous malformation, is presented. In this case, an island of healthy scalp remained intact in the central area of the scalp defect, unlike previously reported cases. The dilated, tortuous scalp vessels apparently disappeared spontaneously only after multiple ligation. Because of slow wound

H. Ohtsuka; M. Yamamoto; N. Okayama



Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation  

ERIC Educational Resources Information Center

|We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria



The Chiari II Malformation: Lesions Discovered within the Fourth Ventricle  

Microsoft Academic Search

Structural lesions associated with the Chiari II malformation have been identified within the fourth ventricle in 8 patients. During the 42-month period encompassing the operations of the 7 patients treated surgically, only 9 other patients were explored without the discovery of some associated structural lesion. The patients ranged in age from 2 to 26 years. The following lesions were identified:

Joseph H. Piatt Jr.; Anthony D’Agostino



Hypospadias and anorectal malformations mediated by Eph/ephrin signaling  

PubMed Central

Purpose Despite extensive research, the molecular basis of hypospadias and anorectal malformations is poorly understood, likely due to a multifactorial basis. The incidence of hypospadias is increasing, thus making research in this area warranted and timely. This review presents recent molecular work broadening our understanding of these disorders. Materials and Methods A brief review of our recent work and the literature on the role of Eph/ephrin signaling in hypospadias and anorectal malformations is presented. Results Genetically engineered mice mutant for ephrin-B2 or EphB2;EphB3 manifest a variety of genitourinary and anorectal malformations. Approximately 40% of adult male heterozygous mice demonstrate perineal hypospadias. Although homozygous mice die soon after birth, 100% of homozygous males demonstrate high imperforate anus with urethral anomalies and 100% of homozygous females demonstrate persistent cloaca. Male mice compound homozygous for EphB2ki/ki;EphB3?/?/ also demonstrate hypospadias. Conclusions These mouse models provide compelling evidence of the role of B-class Eph/ephrin signaling in genitourinary/anorectal development and add to our mechanistic and molecular understanding of normal and abnormal embryonic development. As research on the B-class Ephs and ephrins continues, they will likely be shown to be molecular contributors to the multifactorial basis of hypospadias and anorectal malformations in humans as well.

Yucel, Selcuk; Dravis, Christopher; Garcia, Nilda; Henkemeyer, Mark; Baker, Linda A.



Bardet–Biedl syndrome: beyond the cilium  

Microsoft Academic Search

The Bardet–Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite\\u000a being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of\\u000a primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive\\u000a impairment, genito-urinary tract malformations and limb deformities,

Jonathan L. Tobin; Philip L. Beales



Proteus syndrome: A rare case report  

PubMed Central

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna



Multiple congenital anomalies associated with Duane's syndrome.  


A 33-year-old man had Duane's retraction syndrome, microphthalmos, mixed hearing loss, short fingers and toes, and horseshoe kidneys on both sides and a right epibulbar lipodermoid. The patient had undergone surgical procedures to correct a cleft lip and palate and a left undescended testis. His parents were first cousins. Results of a chromosomal study revealed a normal male karyotype. The association of multiple congenital malformation in this patient may be rare. PMID:2377353

Terashima, M; Hayasaka, S



Ocular findings in linear sebaceous naevus syndrome.  

PubMed Central

The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the naevus, bilateral hearing loss, asymmetrical skull bones, ventricular septal defect, epidermal inclusion cyst, and developmental delay without seizures. Images

Insler, M S; Davlin, L



Mondini deformity in a case of Turner syndrome. A radiological finding.  


Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. PMID:21529720

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel



Multicystic kidney dysplasia and Turner syndrome: two cases and a literature review  

Microsoft Academic Search

Renal malformations occur in 33%–70% of cases of Turner syndrome (chromosome 45 and variants). We describe two cases of multicystic\\u000a dysplastic kidney in Turner syndrome. A literature review of renal abnormalities in Turner syndrome shows the frequency of\\u000a cystic disease to be 1.76%. In multicystic dysplastic kidney, diagnostic investigation of the contralateral kidney, including\\u000a voiding cystourethrography, is necessary in view

V. Fanos; S. Schena; A. Dal Moro; A. Portuese; F. Antoniazzi



Extradural tumor causing spinal cord compression in Klippel-Trenaunay-weber syndrome  

Microsoft Academic Search

BACKGROUNDMyelopathy in Klippel-Trenaunay-Weber syndrome is uncommon but has been reported secondary to spinal vascular malformations.REPORTA patient with Klippel-Trenaunay-Weber syndrome who presented with spinal cord compression from a spinal extradural mass lesion (angiomyolipoma) is described.DISCUSSIONThis association has not been reported previously but is consistent with the segmental vascular abnormalities observed in Klippel-Trenaunay-Weber syndrome.

David A Carter; Kitai Kim; Ray A Brinker



Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography  

Microsoft Academic Search

Klippel-Trenaunay and Parkes Weber (Klippel-Trenaunay-Weber) syndromes consist of vascular malformations of the capillary, venous and lymphatic systems combined with soft tissue and bone hypertrophy of the affected extremity. Klippel-Trenaunay syndrome is a pure low-flow condition, while Parkes Weber syndrome is characterized by significant arteriovenous fistulas. The distinction of both entities is relevant, since the prognosis and therapeutic strategies differ significantly.

S. Ziyeh; J. Spreer; J. Rössler; R. Strecker; A. Hochmuth; M. Schumacher; J. Klisch



[Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].  


Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome. PMID:9312747

Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F


Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.  


Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. PMID:21446802

Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang



The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.  


Taybi-Linder syndrome, also known as microcephalic osteodysplastic primordial dwarfism types I and III, is a rare disorder with presumed autosomal recessive inheritance. It is characterized by intrauterine growth retardation, distinctive bone dysplasia, and central nervous system malformations. We present two siblings with Taybi-Linder syndrome, with an emphasis on the neurological profile in this disease, which includes brain malformations, intractable epilepsy, sensory deficits, profound cognitive deficits, and neuroendocrine dysfunction. We also present distinctive correlative neuroimaging (MRI) and electroencephalographic (EEG) findings. Increased knowledge of the neurological profile of Taybi-Linder syndrome may be helpful for clinicians and genetic counselors managing these patients. PMID:22302400

Pierce, Melinda J; Morse, Richard P



Periorbital lymphatic malformation: clinical course and management in 42 patients.  


Lymphatic malformation in the orbital cavity and surrounding region often causes disfigurement and visual problems. To better clarify the evolution and treatment of this condition, the authors studied a retrospective cohort of 42 consecutive patients seen between 1971 and 2003 and analyzed anatomic features, complications, and management. The ratio of female to male patients was 1:1. Most periorbital lymphatic malformations were noted at birth (59 percent), presenting as either unilateral swelling (60 percent) or a periorbital mass (24 percent). Sixty-two percent of lesions were on the left side. The ipsilateral cheek, temple, and forehead also were involved in 57 percent of patients. Twenty-two percent of lesions were intraconal, 30 percent were extraconal, and 48 percent were in both spaces. Forty-five percent of children had an associated cerebral developmental venous anomaly. Periorbital lymphatic malformation caused major morbidity; 52 percent of patients had intralesional bleeding and 26 percent of patients had a history of infection. Other common complications included intermittent swelling (76 percent), blepharoptosis (52 percent), proptosis (45 percent), pain (21 percent), amblyopia (33 percent), chemosis (19 percent), astigmatism (17 percent), and strabismus (7 percent). Ultimately, 40 percent of children had diminished vision and 7 percent became blind in the affected eye. Management of periorbital lymphatic malformation involved an interdisciplinary team that included an interventional radiologist, a craniofacial surgeon, and an ophthalmologist. The two therapeutic strategies were sclerotherapy (40 percent) and resection (57 percent); most patients required several interventions. A coronal approach was used for subtotal excision of fronto-temporal-orbital lymphatic malformation in 13 patients, whereas a tarsal incision was used for lesions isolated to the eyelid (n = 14). Ocular proptosis was temporarily managed by tarsorrhaphy (n = 9), but expansion of the bony orbit was needed to correct persistent proptosis (n = 8). Orbital exenteration was necessary in two patients. PMID:15622227

Greene, Arin K; Burrows, Patricia E; Smith, Lois; Mulliken, John B



Pathogenesis of cerebral malformations in human fetuses with meningomyelocele  

PubMed Central

Background Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation) may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA) with MMC and 6 fetuses with normal cerebral development (22–41 week GA) were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US). After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation and/or hydrocephalus. Since denuded areas cannot re-establish cell function, neuro-developmental consequences could induce permanent cerebral pathology.

de Wit, Olga A; den Dunnen, Wilfred FA; Sollie, Krystyne M; Munoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodriguez, Esteban M; Sival, Deborah A



Correlation between ultrasound diagnosis and autopsy findings of fetal malformations  

PubMed Central

Summary Objective to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods in this study, all second trimester termination of pregnancy between 2003–2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies ‘not detectable’ by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but ‘detectable’ by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination.

Vimercati, Antonella; Grasso, Silvana; Abruzzese, Marinella; Chincoli, Annarosa; de Gennaro, Alessandra; Miccolis, Angela; Serio, Gabriella; Selvaggi, Luigi; Fascilla, Fabiana Divina



Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.  


Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations. PMID:15214969

Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A



Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement  

ERIC Educational Resources Information Center

|Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne



Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement  

ERIC Educational Resources Information Center

Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne



Smith-Lemli-Opitz Syndrome  

PubMed Central

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability. Elucidation of the biochemical and molecular genetic basis for the autosomal recessively inherited SLOS, specifically, understanding SLOS as a cholesterol deficiency syndrome caused by mutations in DHCR7, opened up enormous possibilities for therapeutic intervention. When cholesterol was discovered to be the activator of sonic hedgehog, cholesterol deficiency with inactivation of this developmental patterning gene was thought to be the cause of SLOS malformations, yet this explanation is overly simplistic. Still, despite these important research breakthroughs, there is no proven treatment for SLOS. Better animal models are needed to allow potential treatment testing and the study of disease pathophysiology, which is incompletely understood. Creation of human cellular models will surely be useful, especially models of brain cells. In vivo human studies are essential as well. There have only been limited natural history studies of SLOS to date. Biomarker development will be critical in facilitating clinical trials in this rare condition, since clinical phenotype may change over many years. Additional research in these and other areas is critical if we are to make headway towards ameloriating the effects of this devastating condition.

DeBarber, Andrea E.; Eroglu, Yasemen; Merkens, Louise S.; Pappu, Anuradha S.; Steiner, Robert D.



The Greig cephalopolysyndactyly syndrome.  


The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G



Diaphragmatic hernia in Denys-Drash syndrome  

SciTech Connect

We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene ({sup 366} Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. 21 refs., 4 figs.

Devriendt, K.; Deloof, E.; Moerman, P. [Univ. Hospital, Leuven (Belgium)] [and others



A rare case of the lenz syndrome.  


We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate. PMID:23543842

T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima



Klippel-Trenaunay syndrome complicating pregnancy.  


The Klippel-Trenaunay syndrome is a rare congenital disorder that affects one or more limbs. It is characterised by cutaneous vascular nevi, venous malformations and hypertrophy of soft tissues and bone. There are very few cases reported in pregnant women, so the level of uncertainty is high when it appears during gestation. It is a disease that increases obstetric risk and can exacerbate complications, mainly thromboembolic and haemorrhagic. We report below the case of a pregnant woman diagnosed with this syndrome and the multidisciplinary management held in our centre. PMID:22854239

González-Mesa, Ernesto; Blasco, Marta; Andérica, José; Herrera, José



Obscure gastrointestinal bleeding and Turner syndrome.  


Gastrointestinal bleeding in individuals with Turner syndrome is relatively rare and there have been only a handful of reported cases in the literature. Here, we present two patients with Turner syndrome who were evaluated for obscure gastrointestinal bleeding. Our first patient presented with iron deficiency anemia and the work-up for a possible gastrointestinal bleed was pertinent only for polyps and a non-bleeding vein in the colon seen on colonoscopy. Our second patient had a history of unexplained recurrent melena and iron deficiency anemia, with previously normal esophagogastroduodenoscopies, colonoscopies and a Meckel's diverticulum scan. Both patients were subsequently diagnosed with gastrointestinal vascular malformations via capsule endoscopy. PMID:23368930

Bang, Ji Young; Peter, Shajan



Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.  


Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844

van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P



The trisomy 18 syndrome.  


The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

Cereda, Anna; Carey, John C



Muscle abnormalities of the chest in Poland’s syndrome: variations and proposal for a classification  

Microsoft Academic Search

Purposes  Poland’s syndrome (PS) is a rare congenital malformation, which combines anomalies of the chest and the homolateral upper\\u000a limb. The purposes of the paper are to study the chest musculoskeletal malformations of the syndrome and propose a classification\\u000a for the thoracic anomalies through our experience and taking into account the literature.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  We reviewed ten patients diagnosed with PS. All of

Kapetanakis Stylianos; Papadopoulos Constantinos; Triantafilidis Alexandros; Fiska Aliki; Agrogiannis Nikolaos; Maria Demetriou; Panagiotou Petros