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1

Macrocephaly-capillary malformation presenting with fetal arrhythmia.  

PubMed

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

2012-01-01

2

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.

2009-01-01

3

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

PubMed

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

2009-05-01

4

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

PubMed

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

2012-02-01

5

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

PubMed

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

2010-12-01

6

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

PubMed

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

2009-01-01

7

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

PubMed

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

2012-04-01

8

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.  

PubMed

Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review of published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM. PMID:18000912

Conway, Robert L; Pressman, Barry D; Dobyns, William B; Danielpour, Moise; Lee, John; Sanchez-Lara, Pedro A; Butler, Merlin G; Zackai, Elaine; Campbell, Lindsey; Saitta, Sulagna C; Clericuzio, Carol L; Milunsky, Jeff M; Hoyme, H Eugene; Shieh, Joseph; Moeschler, John B; Crandall, Barbara; Lauzon, Julie L; Viskochil, David H; Harding, Brian; Graham, John M

2007-12-15

9

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

10

Neurocutaneous vascular syndromes  

Microsoft Academic Search

There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including\\u000a the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica\\u000a congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new\\u000a genetic mutations such as RASA-1. There have also

Katherine B. Puttgen; Doris D. M. Lin

2010-01-01

11

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

PubMed

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

2011-11-01

12

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

PubMed

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

2011-11-01

13

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.

2012-01-01

14

Mayer-Rokitansky syndrome and anorectal malformation  

Microsoft Academic Search

Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia\\u000a being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer\\u000a Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for\\u000a classification of the syndrome and diagnosis of associated anomalies. The

Shreeprasad P. Patankar; Vijay Kalrao I; Shilpa S. Patankar

2004-01-01

15

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

... help with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; capillaries ; cell ; degrade ; developmental delay ; ...

16

Neurocutaneous vascular syndromes.  

PubMed

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

2010-10-01

17

Malformations among the X-linked intellectual disability syndromes.  

PubMed

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. PMID:24166814

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

2013-11-01

18

Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.  

PubMed

Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773

Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A

2013-01-01

19

La « malformation å de Chiari dans le syndrome de Crouzon  

Microsoft Academic Search

Background.- Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation.Patients and methods.- The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on

G Cinalli; D Renier; G Sebag; C Sainte-Rose; E Arnaud; A Pierre-Kahn

1996-01-01

20

Klippel-Feil syndrome and Dandy-Walker malformation.  

PubMed

The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation. PMID:22303802

Karaman, A; Kahveci, H

2011-01-01

21

Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children.  

PubMed

Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Trénaunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease. PMID:19724993

Lobo-Mueller, Edrise; Amaral, Joao G; Babyn, Paul S; Wang, Qiuyan; John, Philip

2009-09-01

22

Malformation syndromes associated with disorders of sex development.  

PubMed

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517

Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D

2014-08-01

23

Anorectal malformation and Down's syndrome in monozygotic twins  

Microsoft Academic Search

Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with

Anthony S. de Buys Roessingh; Claudia Mueller; Chad Wiesenauer; Arié L. Bensoussan; Mona Beaunoyer

2009-01-01

24

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.

1979-01-01

25

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.

2008-01-01

26

Klippel-trénaunay syndrome with intracranial arteriovenous malformation: a rare presentation.  

PubMed

Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). PMID:24653849

Sadiq, Mahniya F; Shuaib, Waqas; Tiwana, Muhammad H; Johnson, Jamlik-Omari; Khosa, Faisal

2014-01-01

27

Klippel-Tr?naunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation  

PubMed Central

Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM).

Sadiq, Mahniya F.; Tiwana, Muhammad H.; Johnson, Jamlik-Omari; Khosa, Faisal

2014-01-01

28

Results of norwood stage I operation: Comparison of hypoplastic left heart syndrome with other malformations  

Microsoft Academic Search

Objective: We compared the Norwood stage I operation for hypoplastic left heart syndrome and other complex malformations with ductus-dependent systemic circulation. Methods: A retrospective study of 194 patients who underwent a Norwood stage I palliation between 1990 and 1998 was conducted. Malformations in 131 patients were classified as hypoplastic left heart syndrome, defined as aortic and mitral atresia or severe

Sabine H. Daebritz; Georg D. A. Nollert; David Zurakowski; Philipe N. Khalil; Peter Lang; Pedro J. del Nido; John E. Mayer; Richard A. Jonas

2000-01-01

29

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.

2011-01-01

30

Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome patients  

Microsoft Academic Search

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions regarding the etiology of

M. Wottgen; S. Brucker; S. P. Renner; P. L. Strissel; R. Strick; A. Kellermann; D. Wallwiener; M. W. Beckmann; P. Oppelt

2008-01-01

31

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.

2011-01-01

32

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.

2012-01-01

33

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.  

PubMed

We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome. PMID:23498571

Azukizawa, Takayuki; Yamamoto, Masahito; Narumiya, Seirou; Takano, Tomoyuki

2013-04-01

34

A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.  

PubMed

Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome. PMID:22483529

Okumura, Akihisa; Lee, Tsubasa; Ikeno, Mitsuru; Shimojima, Keiko; Kajino, Kazunori; Inoue, Yuka; Yoshikawa, Naomi; Suganuma, Hiroki; Suzuki, Mitsuyoshi; Hisata, Ken; Shoji, Hiromichi; Takanashi, Jun-ichi; Barkovich, A James; Shimizu, Toshiaki; Yamamoto, Toshiyuki; Hayashi, Masaharu

2012-11-01

35

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

1975-01-01

36

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

2006-01-01

37

Corpus callosum hematoma secondary to cerebral venous malformation presenting as alien hand syndrome.  

PubMed

A 26-year-old right-handed female presented with alien hand syndrome (AHS) secondary to corpus callosum (CC) hematoma. The patient had abnormal feelings in the left upper limb and exhibited intermanual conflict. Imaging studies demonstrated acute hemorrhage in the genu and body of the CC secondary to cerebral venous malformation. Callosal hemorrhage is usually caused by head trauma or a ruptured arteriovenous that extends beyond the CC. We report what may be the first case of AHS caused by callosal hemorrhage due to venous malformation. PMID:22784383

Huang, Ying; Jia, Jianping

2013-08-01

38

Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)  

PubMed Central

Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /?/, /?/, /?/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

Pruszewicz, Antoni; Wiskirska-Woznica, Bozena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuz, Malgorzata; Szyfter, Krzysztof; Leszczynska, Malgorzata

2014-01-01

39

Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.  

PubMed

Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case. PMID:11392528

Capovilla, G; Lorenzetti, M E; Montagnini, A; Borgatti, R; Piccinelli, P; Giordano, L; Accorsi, P; Caudana, R

2001-05-01

40

[Arteriovenous malformations].  

PubMed

Arteriovenous malformations are serious high-flow vascular malformations. Four progressive stages have been described: dormancy, expansion, destruction and heart failure. Progression from one stage to another is not systematic but depends on events - physiological or traumatic, sometimes iatrogenic. Pulsed Doppler imaging of venous waveforms and magnetic resonance imaging (MRI) are the most informative examinations for both diagnosis and follow-up of arteriovenous malformations.Arteriography and angio-MRI help guide treatment decisions. Treatment of the malformation must not be envisioned until it reaches a symptomatic stage. It most often combines an endovascular procedures and wide surgical excision. A syndromic form must be considered in cases of systemic angioma. PMID:20206460

Naouri, Michael; Lorette, Gérard; Barbier, Charlotte; Zakine, Gilbert; Herbreteau, Denis

2010-04-01

41

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome.  

PubMed

Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I. PMID:24741262

Canpolat, Aydin; Akçakaya, Mehmet Osman; Altunrende, Emre; Ozlü, Harun Mehmet; Duman, Hakan; Ton, Tu?rul; Akdemir, Osman

2014-01-01

42

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome  

PubMed Central

Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.

Canpolat, Aydin; Akcakaya, Mehmet Osman; Altunrende, Emre; Ozlu, Harun Mehmet; Duman, Hakan; Ton, Tugrul; Akdemir, Osman

2014-01-01

43

Fragile X syndrome in two siblings with major congenital malformations  

SciTech Connect

We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed. 24 refs., 4 figs.

Giampietro, P.F.; Haas, B.R.; Lipper, E. [Cornell Univ. Medical Center, New York, NY (United States)] [and others] [Cornell Univ. Medical Center, New York, NY (United States); and others

1996-05-17

44

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.

2003-01-01

45

Amelioration of Chiari type 1 malformation and syringomyelia following posterior calvarial distraction in Crouzon's syndrome - a case report.  

PubMed

Multisutural craniosynostosis as seen in Crouzon's syndrome can result in raised intracranial pressure, Chiari malformation (CM) and syringomyelia. Posterior calvarial distraction (PD) is a technique for addressing cranio-cephalic disproportion, and this case report describes the reversal of both CM and syrinx in a 6-year-old child who underwent PD initially for raise intracranial pressure. PMID:23780407

Ahmad, Fateh; Evans, Martin; White, Nicholas; Nishikawa, Hiroshi; Dover, Stephen; Solanki, Guirish; Rodrigues, Desiderio

2014-01-01

46

[Anorectal malformations].  

PubMed

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

2013-09-01

47

Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally.  

PubMed

A distinct syndrome was ascertained in a 3-year-old girl and her brother. The proband was the first child of first cousin parents. She was born after an uneventful pregnancy. At birth, multiple congenital anomalies were noted: ptosis of the left eyelid, hypertelorism, anteverted nares, large fontanel, long philtrum, ungueal hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. During another pregnancy of the mother, fetal ultrasonographic examination showed an hypertrophy of the right ventricle and atria, a dextroposition of the aorta, a bilateral renal pelvis dilatation, and a club foot. After termination of the pregnancy, necropsy showed facial anomalies, a small penis, a polysyndactyly, a ventricular septum defect, and a malformation of the ductal plate. Bonneau et al. [1983: J Genet Hum 2:93-105] described a family in which three sibs had a complex cardiac malformation, hexadactyly of the first toe, and syndactyly of the third and fourth fingers. Rajab [1997: Clin Dysmorphol 6:85-88] described two sibs with similar features in an Omani family. The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis. PMID:12749069

Stoll, Claude; Gasser, B

2003-06-01

48

Posterior reversible encephalopathy syndrome in a patient with a Chiari I malformation  

PubMed Central

Background: The authors describe a unique case of a patient who developed posterior reversible encephalopathy syndrome (PRES) following postoperative treatment of a Chiari I malformation. Case Decsription: A 25-year-old female presented with complaints of left upper and lower extremity paresthesias and gait disturbances. A magnetic resonance imaging (MRI) of the brain and cervical spine showed a Chiari I malformation with tonsillar descent beyond the level of the C1 lamina. She underwent a suboccipital craniectomy and C1 laminectomy with cerebellar tonsillar cauterization and duraplasty. Postoperatively, an MRI showed bilateral acute infarcts of the cerebellar vermis. She was initially treated for cerebellar ischemia with hypertensive therapy with a subsequent decline in her neurologic status and generalized tonic–clonic seizure. Further workup showed evidence of PRES. After weaning pressors, the patient had a significant progressive improvement in her mental status. Conclusion: Although the mechanism of PRES remains controversial given its diverse clinical presentation, several theories implicate hypertension and steroid use as causative agents.

Hansberry, David R.; Agarwal, Nitin; Tomei, Krystal L.; Goldstein, Ira M.

2013-01-01

49

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome  

PubMed Central

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.

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

2012-01-01

50

Full spectrum of malformations in velo-cardio-facial syndrome\\/DiGeorge syndrome mouse models by altering Tbx1 dosage  

Microsoft Academic Search

Velo-cardio-facial syndrome\\/DiGeorge syndrome (VCFS\\/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the pharyn- geal arches and pouches. The main physical findings include aortic arch and outflow tract heart defects, thymus gland hypoplasia or aplasia and craniofacial anomalies. The disorder varies greatly in expressivity; while some patients are mildly affected

Jun Liao; Lazaros Kochilas; Sonja Nowotschin; Jelena S. Arnold; Vimla S. Aggarwal; Jonathan A. Epstein; M. Christian Brown; Joe Adams; Bernice E. Morrow

2004-01-01

51

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.  

PubMed

We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene. CS has been rarely reported in association with a cortical malformation or epilepsy. These cases suggest that cortical dysplasia needs to be suspected when a CS patient presents with drug-resistant seizures. PMID:22469695

Elia, Maurizio; Amato, Carmelo; Bottitta, Maria; Grillo, Lucia; Calabrese, Giuseppe; Esposito, Maria; Carotenuto, Marco

2012-11-01

52

Atypical Cerebellar Slump Syndrome and External Hydrocephalus following Craniocervical Decompression for Chiari I Malformation: Case Report.  

PubMed

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499

Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S

2014-07-15

53

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome  

PubMed Central

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

Woods, C. G.; Stricker, S.; Seemann, P.; Stern, R.; Cox, J.; Sherridan, E.; Roberts, E.; Springell, K.; Scott, S.; Karbani, G.; Sharif, S. M.; Toomes, C.; Bond, J.; Kumar, D.; Al-Gazali, L.; Mundlos, S.

2006-01-01

54

Dandy-Walker Malformation and Down Syndrome Association: Good Developmental Outcome and Successful Endoscopic Treatment of Hydrocephalus  

PubMed Central

The association of Down syndrome (DS) with Dandy Walker malformation (DWM) is extremely rare, with only 3 cases reported to date. All cases reported have shown a bad life expectancy and a bad developmental outcome. The present case reveals the possibility of a good prognosis. A 19-month-old male patient had successful endoscopic hydrocephalus treatment and a good developmental outcome. He probably had a better outcome because of good DS and DWM prognostic parameters. Our patient suffered from a DWM with vermis identification of 2 fissures and 3 lobes and a DS with a well-preserved tonus, which was not associated with other congenital systemic defects. We may conclude that the prognosis of DS-DWM association may separately depend on the degree of clinical and neurological involvement of each malformation.

Nigri, Flavio; Cabral, Isaias Fiuza; da Silva, Raquel Tavares Boy; Pereira, Heloisa Viscaino; Ribeiro, Carlos Roberto Telles

2014-01-01

55

Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus.  

PubMed

The association of Down syndrome (DS) with Dandy Walker malformation (DWM) is extremely rare, with only 3 cases reported to date. All cases reported have shown a bad life expectancy and a bad developmental outcome. The present case reveals the possibility of a good prognosis. A 19-month-old male patient had successful endoscopic hydrocephalus treatment and a good developmental outcome. He probably had a better outcome because of good DS and DWM prognostic parameters. Our patient suffered from a DWM with vermis identification of 2 fissures and 3 lobes and a DS with a well-preserved tonus, which was not associated with other congenital systemic defects. We may conclude that the prognosis of DS-DWM association may separately depend on the degree of clinical and neurological involvement of each malformation. PMID:24932176

Nigri, Flavio; Cabral, Isaias Fiuza; da Silva, Raquel Tavares Boy; Pereira, Heloisa Viscaíno; Ribeiro, Carlos Roberto Telles

2014-05-01

56

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

PubMed

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

2013-03-01

57

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

PubMed

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

2013-03-01

58

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome  

PubMed Central

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 a 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.

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

2012-01-01

59

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

PubMed Central

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 cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7

King, M D; Dudgeon, J; Stephenson, J B

1984-01-01

60

Genetic malformations of cortical development  

Microsoft Academic Search

The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia

Renzo Guerrini; Carla Marini

2006-01-01

61

CHD7 Deficiency in "Looper", a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment  

PubMed Central

CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.

Ogier, Jacqueline M.; Carpinelli, Marina R.; Arhatari, Benedicta D.; Symons, R. C. Andrew; Kile, Benjamin T.; Burt, Rachel A.

2014-01-01

62

Resolution of syndromic craniosynostosis-associated Chiari malformation Type I without suboccipital decompression after posterior cranial vault release.  

PubMed

Chiari malformation Type I (CM-I) is associated with syndromic and nonsyndromic craniosynostosis in pediatric patients, and the surgical management of CM-I in such cases is controversial. Previous guidelines have recommended simultaneous cranial vault expansion and suboccipital decompression. However, spontaneous resolution of CM-I has been observed, and the combined procedure carries additional surgical risks. The authors report the case of a 6-month-old boy with Crouzon syndrome, CM-I, and a cervical syrinx who underwent posterior cranial vault release without suboccipital decompression. Imaging at the 3-month follow-up visit demonstrated complete resolution of the CM-I, improvement in CSF flow, and reduction in the size of the syrinx. This case suggests that up-front suboccipital decompression may not be necessary in patients with craniosynostosis and CM-I. A strategy of initial cranial vault release, followed by watchful waiting and radiographic surveillance, is proposed. PMID:22295912

Levitt, Michael R; Niazi, Toba N; Hopper, Richard A; Ellenbogen, Richard G; Ojemann, Jeffrey G

2012-02-01

63

Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?  

PubMed

Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL. PMID:20101707

Wójcik, Cezary; Volz, Kim; Ranola, Maria; Kitch, Karla; Karim, Tariza; O'Neil, Joseph; Smith, Jodi; Torres-Martinez, Wilfredo

2010-02-01

64

Congenital malformations in Utah.  

PubMed

The rate of malformed children in Utah of 11.7 per 1,000 liver births, derived from 128,857 birth certificates, ws not high compared with other non-Utah studies. Rates of selected malformations also were not high. The rate of malformed children varied by county of residence. San Juan County reported the highest percentage of mothers receiving late or infrequent prenatal care, the lowest mean level of public education, and the highest rate of malformed children in the state. The rate was not significantly associated with the large population of Indians residing in that county since by controlling for residence, the variation by race was eliminated. The overall rate was positively associated with maternal age rimarily due to an increased frequency of Down's syndrome. The impact of the "maternal age effect" on the state malformation rate, however, was not large. By controlling for maternal age, the slight association between increased rate of malformed children and increasing birth order was eliminated. The rate of malformed children was higher for parents having a low level of education, infrequent prenatal care, or who were not married. There was also a strong negative association of birth weight with the rate of malformation. Analysis of rates of selected malformations suggested that the low birth weight was a sequela to intrauterine growth retardation caused by severe congenital malformation. The validity and etiologic implications of these results await further investigation. PMID:6449752

Seegmiller, R E; Hansen, W N

1980-10-01

65

A FETAL RAT TESTIS ENDOCRINE AND GENOMIC "SIGNATURE"ACCURATELY PREDICTS THE PHTHALATE SYNDROME OF MALFORMATIONS.  

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 ...

66

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

PubMed

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

2008-06-01

67

Cardiorenal Syndrome is Present in Human Fetuses with Severe, Isolated Urinary Tract Malformations  

PubMed Central

Objective We analyzed the association between renal and cardiovascular parameters in fetuses with isolated severe urinary tract malformations. Methods 39 fetuses at a mean gestational age of 23.6 weeks with nephropathies or urinary tract malformations and markedly impaired or absent renal function were prospectively examined. Fetal echocardiography was performed, and thicknesses of the interventricular septum, and left and right ventricular wall were measured. Blood flow velocity waveforms of the umbilical artery, middle cerebral artery, and ductus venosus were obtained by color Doppler ultrasound. Concentrations of circulating n-terminal pro-B-type natriuretic peptide (nt-proBNP), cystatin C, ß2-microglobulin, and hemoglobin were determined from fetal blood samples. Results Malformations included 21 cases of obstructive uropathy, 10 fetuses with bilateral nephropathy, and 8 cases of bilateral renal agenesis. Marked biventricular myocardial hypertrophy was present in all cases. The ratio between measured and gestational age-adjusted normal values was 2.01 (interventricular septum), 1.85, and 1.78 (right and left ventricular wall, respectively). Compared to controls, levels of circulating nt-proBNP were significantly increased (median (IQR) 5035 ng/L (5936 ng/L) vs. 1874 ng/L (1092 ng/L); p<0.001). Cystatin C and ß2-microglobulin concentrations were elevated as follows (mean ± SD) 1.85±0.391 mg/L and 8.44±2.423 mg/L, respectively (normal range 1.66±0.202 mg/L and 4.25±0.734 mg/L, respectively). No correlation was detected between cardiovascular parameters and urinary tract morphology and function. Despite increased levels of nt-proBNP cardiovascular function was preserved, with normal fetal Doppler indices in 90.2% of cases. Conclusion Urinary tract malformations resulting in severe renal impairment are associated with biventricular myocardial hypertrophy and elevated concentrations of circulating nt-proBNP during fetal life. Cardiovascular findings do not correlate with kidney function or morphology.

Merz, Waltraut M.; Kubler, Kirsten; Fimmers, Rolf; Willruth, Arne; Stoffel-Wagner, Birgit; Gembruch, Ulrich

2013-01-01

68

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.  

PubMed

We report on a fetus with a large deletion of the distal part of the long arm of chromosome 13, (del(13)(q14 --> qter)) congenital anomalies of the urinary system, lungs and extremities, and Dandy-Walker malformation (DWM). Although DWM has been associated with many chromosomal abnormalities and genetic syndromes, its relation to the distal 13q has been demonstrated recently. In 2002, McCormack et al., described two patients with deletions of the long arm of chromosome 13 who had multiple congenital abnormalities along with holoprosencephaly (HPE) and DWM. The phenotypic features and autopsy findings of a fetus with "distal 13q deletion syndrome" at 22 weeks gestation are discussed and comparison with the previous two cases is made. The findings support the previous hypothesis suggesting that haploinsufficiency at a locus within 13q22-33 due to microdeletions may be responsible for isolated DWM in some of the patients. Detailed examination of 13q (13q22-33) by means of conventional and molecular cytogenetic methods is necessary in cases with DWM. PMID:15948192

Alanay, Yasemin; Akta?, Dilek; Utine, Eda; Talim, Beril; Ondero?lu, Lütfü; Ca?lar, Melda; Tunçbilek, Ergül

2005-07-30

69

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

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

2013-08-01

70

Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study  

PubMed Central

Purpose Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encountered in our practice in patients with cleidocranial dysplasia. We aimed to further delineate the underlying spine pathology and its etiological understanding. Extraspinal deformities were dealt with respectively. Material and methods In this paper, we describe 7 patients who were consistent with the phenotypic and the genotypic characterization of cleidocranial dysplasia. Reformatted computed tomography (CT) scans have been applied in several instances to further understand the underlying pathology of progressive spine tilting. Radiographs were sufficient to illustrate other skeletal malformations. Results Anatomical survey demonstrates that a broad spectrum of frequently unrecognized orthopedic aberrations were encountered. We believe that torticollis has evolved in connection with the persistence of synchondrosis of the skull base and the upper cervical spine and these are strongly correlated to the well-known pathology of posterior occipital synchondrosis. Similarly, scoliosis and kyphoscoliosis resulted from the pathologic aberration of the cartilaginous stage of disrupted embryological development. All our results are discussed for the first time. Coxa vara, patellar dysplasia, and genu valgum were observed as extraspinal deformities. Conclusion This paper includes for the first time the anatomical analysis of the malformation complex of the craniocervical and the entire spine in patients with cleidocranial dysplasia. Reformatted CT scan was the modality of choice. We were able to illustrate that the persistence of skull base and the cervical spine synchondrosis were correlated with the pathological mechanism of the posterior occipital synchondrosis. Therefore, injuries to the craniocervical region in these patients might lead to a wide range of dreadful complications, ranging from complete atlanto-occipital or atlanto-axial dislocation to nondisplaced occipital condyle avulsion fractures with the possibility of morbid and or mortal outcome. On the other hand, the persistence of a cartilaginous spine was the reason behind the progressive spine tilting. This pathological form can be considered as a notoriously unpredictable malformation complex. The value of presenting these patients is to demonsterate that the genotype is not a precise index to assess the severity and the natural history of the phenotype.

Al Kaissi, Ali; Ben Chehida, Farid; Kenis, Vladimir; Ganger, Rudolf; Radler, Christof; Hofstaetter, Jochen G.; Klaushofer, Klaus; Grill, Franz

2013-01-01

71

Ruptured vascular malformation masquerading as battered\\/shaken baby syndrome: A nearly tragic mistake  

Microsoft Academic Search

Battered\\/shaken baby syndrome is a clinical and pathologic diagnosis based on clinical examination, central nervous system dysfunction, and intracranial, optic nerve sheath, and retinal hemorrhages in infants under the age of three years. This report describes a case in which the battered\\/shaken baby syndrome was suspected because of an unusual parental reaction to an acute, mortal illness in their seven-week-old

Jonathan Wirtschafter; David J. Weissgold; Donald L. Budenz; Ian Hood; Lucy B. Rorke

1995-01-01

72

Brain Malformations  

MedlinePLUS

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 ...

73

[Klippel-Feil syndrome and associated malformations. Comments on an unusual case].  

PubMed

An unusual association of Klippel-Feil syndrome and other abnormalities (Sprengel's deformity, 1st cervical and 1st dorsal spina bifida, homovertebral bone, scoliosis, plagiocephaly, basilar impression, pterygium colli, nanism, hypogenitalism, etc.) together with neurological signs of amyotrophic lateral sclerosis, in a 36-yr-old woman is reported. The clinical and radiological pictures are examined and the exterior morphology is examined. The three types of Klippel-Feil syndrome are discussed, together with the particular alterations observed in the present case: Sprengel's deformity, spina bifida, craniostenosis, basilar impression, etc. PMID:1093066

Rodriguez Cuartero, A; Vilchez Medina, J; Peláez Redondo, J

1975-04-14

74

Amphibian malformations  

USGS Publications Warehouse

Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

National Wildlife Health Center

1998-01-01

75

Berry Syndrome, a Complex Aortopulmonary Malformation: One-Stage Repair in a Neonate  

Microsoft Academic Search

Successful one-stage repair of a Berry syndrome (interrupted aortic arch, distal aortopulmonary septal defect, right pulmonary artery branch originating from the ascending aorta, and intact ventricular septum) in the neonatal period has been reported in only 2 cases. We report the case of a newborn operated on with deep hypothermic arrest and isolated myocardial perfusion in whom the interrupted aortic

Pietro A Abbruzzese; Maurizio Merlo; Enrico Chiappa; Renzo Bianco; Federica Ferrero; Carlo M Cappone

1997-01-01

76

Pontine malformation, undecussated pyramidal tracts and regional polymicrogyria: a new syndrome  

PubMed Central

BACKGROUND Horizontal gaze palsy and progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, which plays a role in axonal guidance during brain development. HGPPS is characterized by the congenital absence of conjugate lateral eye movements with preserved vertical gaze and progressive scoliosis, as well as dysgenesis of brainstem structures and ipsilateral projection of the pyramidal tract. PATIENT A 4-year-11-month-old girl presented with psychomotor retardation and autistic traits. Magnetic resonance imaging revealed hypoplasia and malformation of the ventral portion of the pons and medulla oblongata. Diffusion tensor imaging revealed the absence of decussation of the bilateral pyramidal tracts. These findings were similar to the typical findings for HGPPS. However, restriction of horizontal eye movement was minimal, and bilateral polymicrogyria were also noted in the occipitotemporal cortex in the present patient. These findings have not been previously reported in patients with HGPPS. No mutations in the ROBO3, SLIT1, SLIT2, NTN1, SEMA3A and SEMA3F genes were identified. CONCLUSION This patient may have a disorder caused by an unidentified factor, other than a mutation in the genes analyzed, involved in corticogenesis, axonal guidance, and brainstem morphogenesis.

Irahara, Kaori; Saito, Yoshiaki; Sugai, Kenji; Nakagawa, Eiji; Saito, Takashi; Komaki, Hirofumi; Nakata, Yasuhiro; Sato, Noriko; Baba, Kazumi; Yamamoto, Toshiyuki; Chan, Wai-Man; Andrews, Caroline; Engle, Elizabeth C; Sasaki, Masayuki

2014-01-01

77

[Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)].  

PubMed

The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling. PMID:22488498

Borges, Mariana de Almeida Pinto; Pires, Maria Lucia Elias; Monteiro, Denise Leite Maia; Santos, Suely Rodrigues Dos

2012-03-01

78

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.  

PubMed

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. PMID:21465653

Mégarbané, André; Chouery, Eliane; Mignon-Ravix, Cécile; El Sabbagh, Sandra; Corbani, Sandra; Ghoch, Joelle Abou; Jalkh, Nadine; Mehawej, Cybel; Lévy, Nicolas; Villard, Laurent

2011-05-01

79

Malformed Frogs  

NSDL National Science Digital Library

This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.

Twin Cities Public Television, Inc.

2005-01-01

80

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.  

PubMed

We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. PMID:19206157

Tekin, Mustafa; Sirmaci, Asli; Yüksel-Konuk, Berrin; Fitoz, Suat; Sennaro?lu, Levent

2009-03-01

81

Diffuse cerebral arteriovenous malformation.  

PubMed

Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was within normal limits except periorbital bruit on oscultation. Radiological examination revealed a diffuse AVM comprising multiple arteriovenous shunts, draining bihemispherically through numerous dilated veins but without a typical arteriovenous malformation nidus. No hereditary disorder was detected. No treatment was performed and the patient is still under follow-up. PMID:20963707

Solmaz, Ilker; Secer, Halil Ibrahim; Tehl?, Ozkan; Tem?z, Caglar; Izc?, Yusuf; Gonul, Engin

2010-10-01

82

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice  

PubMed Central

SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. Fgfrl1 null mutants also display a transient foetal anaemia and a fully penetrant diaphragm defect, causing prenatal and perinatal lethality. Together, these data support a wider role for Fgfrl1 in development, implicate FGFRL1 insufficiency in WHS, and provide a novel animal model to dissect the complex aetiology of this human disease.

Catela, Catarina; Bilbao-Cortes, Daniel; Slonimsky, Esfir; Kratsios, Paschalis; Rosenthal, Nadia; te Welscher, Pascal

2009-01-01

83

Severe desaturation while attempting one-lung ventilation for congenital cystic adenomatoid malformation with respiratory distress syndrome in neonate -A case report-  

PubMed Central

There are many methods for achieving one-lung ventilation (OLV) during thoracic surgery in neonates and the accuracy of OLV may affect postoperative outcome. The authors have performed OLV using a 5 Fr Arndt endobronchial blocker (AEB, Cook Inc., Bloomington, IN, USA) on a neonate diagnosed with congenital cystic adenomatoid malformation and respiratory distress syndrome (RDS) associated with marked mediastinal shift. In spite of sufficient preoxygenation, sudden and severe fall in oxygen saturation had occurred. Since neonates with RDS may develop sudden and severe desaturation, rapid intubation with anticipation of potential difficulty is necessary as well as sufficient preoxygenation.

Seok, Ji-Hye; Ban, Jong-Seouk; Lee, Sang-Gon; Lee, Ji-Hyang; Seo, Da-Mi; Shim, Kwang-Seok

2013-01-01

84

[Clinical aspects of capillary malformations].  

PubMed

Capillary malformations (CM) are defects of the dermal capillary bed. These slow-flow malformations can affect any part of the body and are always lateralized, despite Unna's naevus. Present at birth, they grow proportionally with the child. In rare instance, they can be part of a more complex syndrome such as Sturge-Weber syndrome. Ectatic CMs of telangiectatic types can be cutaneous, isolated, multiples, diffuse or generalized. In rare instance, they can be associated with epidermal modifications. They can also be part of a syndrome such as Fabry disease, Osler-Weber-Rendu disorder or Cutis marmorata telangiectatica congenita (CMTC). This chapter details the various clinical aspects of CMs. PMID:17007980

Bataille, A-C; Boon, L-M

2006-01-01

85

Treatment of congenital malformations.  

PubMed

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

2011-03-01

86

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.

2013-01-01

87

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).  

PubMed

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1?G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity. PMID:23756445

Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

2014-03-01

88

Anorectal malformations  

Microsoft Academic Search

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,

Marc A Levitt; Alberto Peña

2007-01-01

89

A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis.  

PubMed

Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, and hypoplastic ear lobules with bilaterally narrow and oblique external auditory canals. Recognisable skeletal abnormalities include hypoplastic facial bones, hypoplastic clavicles, narrow and anteriorly sloping shoulders, bowing of both forearm bones, brachydactyly due to short metacarpals and hypoplastic terminal phalanges, thoracolumbar kyphoscoliosis, narrow transverse measurements of most vertebrae with prominent coccyx, spinal canal narrowing, hypoplasia of lower ilia, medially bowed femora, tibiae and fibulae and brachysyndactyly of the second, third and fourth toes bilaterally. Gynaecological evaluation revealed abnormalities of the Mullerian duct structures: urogenital sinus, a vestigial uterus, a posteriorly placed small but patent vagina and a septum at the vaginal introitus. The pattern of MCA probably refers to a new syndrome within the "community of syndromes" involving anomalies of the Mullerian duct structures, limbs, spine and external ears. PMID:9272710

Kumar, D; Masel, J P

1997-07-01

90

Epidemiology of Noncomplex Left Ventricular Outflow Tract Obstruction Malformations (Aortic Valve Stenosis, Coarctation of the Aorta, Hypoplastic Left Heart Syndrome) in Texas, 1999 -2001  

PubMed Central

BACKGROUND The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) contribute significantly to infant mortality due to birth defects. Previous epidemiology data showed rate differences between male and female and white and black ethnic groups. The Texas Birth Defects Registry, an active surveillance program, enables study in a large, diverse population including Hispanics. METHODS Records of children up to 1 year old with AVS, CoA, and HLHS born in Texas from 1999 to 2001, were collected from the registry. Those including additional heart defects or a chromosomal anomaly were excluded. Multivariate analysis included: infant sex; United States–Mexico border county residence; and maternal age, race/ethnicity, birthplace, and education. RESULTS There were 910 cases among 1.08 million live births, of which 499 met inclusion criteria. Multivariate modeling of all LVOT malformations combined demonstrated lower prevalence rate ratios (PRRs) for black males (0.26) and Hispanic males (0.70). Similar results were found for CoA but not AVS or HLHS. Higher PRRs were noted for increased maternal age for LVOT (1.3 for 24–34 years; 1.7 for >34 years), AVS, and HLHS, but not CoA, and higher PRRs across all diagnoses for males (LVOT PRR, 2.4) were noted. CoA PRRs were higher in border county vs. non–border county residents (PRR, 2.1). Maternal education and birthplace were not significant factors. CONCLUSIONS There are rate differences for males among all 3 ethnic groups. Sex and ethnic differences suggest genetic etiologies, where the ethnic differences could be used to find susceptibility loci with mapping by admixture linkage disequilibrium. Increased CoA rates along the U.S.–Mexico border suggest environmental causes that will require further monitoring.

McBride, Kim L.; Marengo, Lisa; Canfield, Mark; Langlois, Peter; Fixler, David; Belmont, John W.

2006-01-01

91

Genetic malformations of cortical development.  

PubMed

The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy. FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and 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. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior SBH owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Mutations of DCX have also been found in male patients with anterior SBH and in female relatives with normal brain magnetic resonance imaging. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and seizures with suppression-burst EEG. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene. Epilepsy is often present in patients with cortical malformations and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating cortical malformations to epilepsy remain elusive. PMID:16724181

Guerrini, Renzo; Marini, Carla

2006-08-01

92

Vaginal agenesis or distal vaginal atresia associated with anorectal malformations  

Microsoft Academic Search

Background: Mayer-Rokitansky-Küster-Hauser syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe seven females with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the

Tomas Wester; Juan A. Tovar; Risto J. Rintala

93

[Superficial venous malformations].  

PubMed

Superficial venous malformations are part of a larger group now called superficial vascular anomalies and previously known as angiomas. These include vascular tumors or infantile hemangioma, low-flow vascular malformations (capillary, lymphatic, and superficial venous malformations) and high-flow vascular malformations (arteriovenous malformations). Some of these lesions are complex. This classification facilitates their multidisciplinary therapeutic management. Embolization is an effective curative treatment for malformations of small and intermediate size. The objective for large or complex malformations is to restore anatomic function and improve cosmetic results. PMID:20304597

Barbier, Charlotte; Martin, Arnaud; Papagiannaki, Chrisanti; Cottier, Jean-Philippe; Lorette, Gérard; Herbreteau, Denis

2010-04-01

94

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.  

PubMed

Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells. PMID:8737981

Stewart, F J; Carson, D J; Thomas, P S; Humphreys, M; Thornton, C; Nevin, N C

1996-03-01

95

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

2013-01-01

96

Anorectal malformations  

PubMed Central

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

Levitt, Marc A; Pena, Alberto

2007-01-01

97

Genetics Home Reference: Townes-Brocks Syndrome  

MedlinePLUS

... 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 ...

98

Associated malformations among infants with radial ray deficiency.  

PubMed

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

2013-01-01

99

Management of Pulmonary Arteriovenous Malformations  

PubMed Central

Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up.

Meek, Mary E.; Meek, James C.; Beheshti, Michael V.

2011-01-01

100

Venous Malformation: update on etiopathogenesis, diagnosis & management  

PubMed Central

The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area.

Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

2011-01-01

101

Cervicofacial Venous Malformations  

PubMed Central

Summary We retrospectively evaluated 53 consecutive patients with cervicofacial venous malformation who had sclerotherapy. This review included a demographic analysis, MRI reexamination and tabulation of interventional therapeutic strategies. All patients whose MRI studies were included in this review demonstrated characteristic findings: space occupying lesion with hyperintense T2 signal abnormality, patchy contrast enhancement, and no flow signal on the gradient echo images. We concluded that a complete MRI work-up of these patients requires post-contrast scanning and gradient-echo imaging in addition to the standard T1 and T2 weighted spin echo imaging. The majority of patients had sporadic (non-familial) venous anomalies. Sinus pericranii (SP) was identified in six patients (11%) and blue rubber bleb nevus syndrome (BRB-NS) was found in two patients (4%). MRI findings of sinus pericranii are discussed in detail. Although sodium tetradecyl and/or absolute ethanol are the most commonly used sclerosants, a wide variety of therapeutic strategies (depending on the nature of the abnormality) are also needed for these patients.

Konez, O.; Burrows, P. E.; Mulliken, J.B.

2002-01-01

102

Pulmonary arteriovenous malformations.  

PubMed

Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that most often connect a pulmonary artery to a pulmonary vein, bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. As a consequence, patients with PAVM can have hypoxemia and paradoxical embolization complications, including stroke and brain abscess. PAVMs may be single or multiple, unilateral or bilateral, and simple or complex. Most PAVMs are hereditary and occur in hereditary hemorrhagic telangiectasia, an autosomal dominant vascular disorder, and screening for PAVM is indicated in this subgroup. PAVMs may also be idiopathic, occur as a result of trauma and infection, or be secondary to hepatopulmonary syndrome and bidirectional cavopulmonary shunting. Diagnostic testing involves identifying an intrapulmonary shunt, with the most sensitive test being transthoracic contrast echocardiography. Chest CT scan is useful in characterizing PAVM in patients with positive intrapulmonary shunting. Transcatheter embolotherapy is the treatment of choice for PAVM. Lifelong follow-up is important because recanalization and collateralization may occur after embolization therapy. Surgical resection is rarely necessary and reserved for patients who are not candidates for embolization. Antibiotic prophylaxis for procedures with a risk of bacteremia (eg, dental procedures) is recommended in all patients with PAVM because of the risk of cerebral abscess. PMID:24008954

Cartin-Ceba, Rodrigo; Swanson, Karen L; Krowka, Michael J

2013-09-01

103

Recent advances in the genetic etiology of brain malformations.  

PubMed

In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931

Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M

2013-08-01

104

Aase syndrome  

MedlinePLUS

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

105

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  

SciTech Connect

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 in which the patients with 5p deletions have only the characteristic cat-like cry with normal to mildly delayed development. One family has three children with varying levels of developmental delay and a deletion of 5p15.3 that was inherited from the father. The second family has a mother and daughter both presenting with a cat-like cry and normal intelligence. A de novo deletion in a patient with isolated cat cry and mild developmental delay was also identified. The precise locations of the deletions in each family were determined by fluorescent in situ hybridization using lambda phage, cosmids, and YAC clones. Cryptic translocations and mosaicism were not detected in the parents transmitting the deletion. All of the deletion breakpoints map distal to the previously defined cri-du-chat critical region. A YAC contig has been constructed for the chromosomal region implicated in the larynx malformation. DNA clones mapping in this region will be useful diagnostic tools for delineating 5p deletions that result in the typical features of cri-du-chat syndrome with deletions that result in the isolated cat-like cry feature which is associated with a better prognosis.

Gersh, M.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Pasztor, L.M. [Children`s Mercy Hospital, Kansas City, MO (United States)] [and others

1994-09-01

106

Studies of malformation syndromes in man XXXX: Multiple congenital anomalies\\/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY\\/XXY father)  

Microsoft Academic Search

The McDonough syndrome is a “new” MCA\\/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47-67) and had congenital heart defect, sternal deformity, kyphosis and craniofacial anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is

Gerhard Neuhguserl; John M. Opitz

1975-01-01

107

Arnold-Chiari malformation.  

PubMed

Arnold-Chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the Arnold-Chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue. PMID:1565422

Russell, G E; Wick, B; Tang, R A

1992-03-01

108

Diffuse malformations of cortical development.  

PubMed

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

2013-01-01

109

Associated malformations in patients with limb reduction deficiencies.  

PubMed

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

2010-01-01

110

Arnold-Chiari malformation with syrinx presenting as carpal tunnel syndrome: a case report 1 1 No commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the author(s) or upon any organization with which the author(s) is\\/are associated  

Microsoft Academic Search

Ziadeh MJ, Richardson JK. Arnold-Chiari malformation with syrinx presenting as carpal tunnel syndrome: a case report. Arch Phys Med Rehabil 2004;85:158-61.A 26-year-old administrative assistant presented with 3 years of left-hand dysesthesia involving primarily the first 3 digits. Her symptoms increased at night and with keyboard use. Through 12 visits to primary and specialty care physicians over 3 years, she experienced

Mark J Ziadeh; James K Richardson

2004-01-01

111

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

2012-01-01

112

A developmental and genetic classification for midbrain-hindbrain malformations  

PubMed Central

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered.

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

113

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.  

PubMed

Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extent and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with short stature, ichthyosis, severe mental retardation, cortical heterotopias and Dandy-Walker malformation. The latter two abnormalities have so far not been reported in terminal Xp deletions. MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed that the patient had an 8.41 Mb distal deletion of chromosome region Xp22.31 --> Xpter. This interval contains several genes whose deletion can partly explain our patient's phenotype. His cortical heterotopias and DWM suggest that a gene involved in brain development may be in the deleted interval, but we found no immediately obvious candidates. Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype. PMID:18925676

van Steensel, M A M; Vreeburg, M; Engelen, J; Ghesquiere, S; Stegmann, A P A; Herbergs, J; van Lent, J; Smeets, B; Vles, J H

2008-11-15

114

Malformations, withdrawal manifestations, and hypoglycaemia after exposure to valproate in utero  

Microsoft Academic Search

An unselected series is presented of 17 infants born to epileptic mothers and exposed to sodium valproate during pregnancy. Nine infants had minor abnormalities and of these infants five also had major malformations, described as the 'fetal valproate syndrome'. The most frequent malformation was congenital heart disease. Nine of the infants had manifestations of withdrawal, such as irritability, jitteriness, abnormalities

E Thisted; F Ebbesen

1993-01-01

115

Chiasmal apoplexy: haemorrhage from a cavernous malformation in the optic chiasm.  

PubMed Central

We present a patient who experienced sudden onset of orbital headache, visual loss and bitemporal visual field defect. MRI of the optic chiasm suggested a diagnosis of haemorrhage and hence a vascular malformation. Pterional craniotomy revealed an intrachiasmatic haematoma with a cavernous angioma. The malformation was totally excised and vision improved after surgery. The syndrome of chiasmal apoplexy is discussed. Images

Regli, L; de Tribolet, N; Regli, F; Bogousslavsky, J

1989-01-01

116

Townes-Brocks syndrome  

PubMed Central

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.???Keywords: Townes-Brocks syndrome; chromosome 16q12.1; SALL1

Powell, C.; Michaelis, R.

1999-01-01

117

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

2003-01-01

118

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.

2012-01-01

119

Urofacial syndrome.  

PubMed

The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure. PMID:22382233

Akl, Kamal F; Al Momany, Hashem M

2012-03-01

120

Congenital uterine malformations.  

PubMed

With the advent of newer imaging techniques, the radiologist is now able to make very precise and accurate diagnoses of congenital uterine malformations and their complications. Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate from bicornuate uteri. Obstructed uterovaginal anomalies (e.g., hematometros, hematometrocolpos), an important complication of abnormal müllerian duct development, can occur at any time from the newborn period to adulthood. Determining the site of obstruction is imperative for planning the proper surgical approach. To understand these malformations better, we review the relevant embryology. The most widely accepted classification scheme is discussed in detail, with an emphasis on diagnosis, prognosis, and therapeutic options. PMID:8536487

Woodward, P J; Sohaey, R; Wagner, B J

1995-01-01

121

Chiari malformation in craniosynostosis  

Microsoft Academic Search

Introduction: Chiari mal- formation (CM) is a frequent finding in multisutural and syndromic cra- niosynostosis, occurring in 70% of patients with Crouzon's syndrome, 75% with oxycephaly, 50% with Pfeiffer's syndrome and 100% with the Kleeblattschädel deformity. The pathogenesis of this condition and rationale for treatment are still con- troversial. Discussion: Since its first description in 1972, several factors have been

Giuseppe Cinalli; Pietro Spennato; Christian Sainte-Rose; Eric Arnaud; Ferdinando Aliberti; Francis Brunelle; Emilio Cianciulli; Dominique Renier

2005-01-01

122

Congenital malformations in the newborn  

Microsoft Academic Search

Summary  5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine\\u000a the role of environmental factors in the causation of these anomalies.\\u000a \\u000a The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per\\u000a cent. The maximum number of malformed children were born to

K. K. Khanna; L. S. N. Prasad

1967-01-01

123

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

2009-01-01

124

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.

2012-01-01

125

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)

1996-11-15

126

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

2008-01-01

127

Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality  

PubMed Central

Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country.

Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

2014-01-01

128

Uterine arteriovenous malformation.  

PubMed

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

2013-01-01

129

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

2012-01-01

130

Disorders of cognitive and affective development in cerebellar malformations.  

PubMed

Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time. PMID:17872929

Tavano, Alessandro; Grasso, Rita; Gagliardi, Chiara; Triulzi, Fabio; Bresolin, Nereo; Fabbro, Franco; Borgatti, Renato

2007-10-01

131

Polymicrogyria: A common and heterogeneous malformation of cortical development.  

PubMed

Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. © 2014 Wiley Periodicals, Inc. PMID:24888723

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

132

Proteus Syndrome with Multiple Genitourinary Abnormalities  

Microsoft Academic Search

Proteus syndrome is a rare hamartomatous disorder comprising a broad spectrum of congenital malformations and overgrowth of multiple tissues. Some rare urogenital malformations have been reported before. This case is unique for the presence of multiple genitourinary anomalies including retroperitoneal cystic mass, intra-abdominal testicle with hematoma and ureterovesical stricture apart from common clinic findings of proteus syndrome.

Ayhan Karabulut; Melih Sunay; Levent Emir; Demokan Erol

2006-01-01

133

What is a capillary malformation?  

PubMed

Today, the designation "capillary malformation" is widely used as a modern name for what was formerly called a nevus flammeus or port-wine stain. This new terminology, however, is inaccurate and ambiguous. There are at least nine different skin disorders fulfilling the criteria of a capillary malformation. Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease. Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity. PMID:19022106

Happle, Rudolf

2008-12-01

134

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

2007-01-01

135

Embolization of uterine arteriovenous malformation  

PubMed Central

Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment

Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

2013-01-01

136

MRCP of congenital pancreaticobiliary malformation  

Microsoft Academic Search

\\u000a Abstract\\u000a Background  Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma. Currently, MRCP is one of the first choices for investigating and diagnosing pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and ERCP in making the diagnosis of congenital pancreaticobiliary malformations.Methods  In patients with pancreas divisum (n = 17), pancreaticobiliary maljunction (n = 12), choledochocele (n = 2) and annular pancreas

T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata

137

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.

1973-01-01

138

Progressive tentorial cavernous malformation  

PubMed Central

Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions.

Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro

2012-01-01

139

Pediatric dural arteriovenous malformations.  

PubMed

Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128

Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia

2014-07-01

140

AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS  

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

2004-01-01

141

[Amniotic band syndrome].  

PubMed

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

2008-12-01

142

Why study human limb malformations?  

PubMed Central

Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.

Wilkie, Andrew OM

2003-01-01

143

Surgical removal of striate arteriovenous malformations.  

PubMed

Some arteriovenous malformations fed by the striate arteries and lying within the claustrolenticular region can be excised by using microsurgical techniques. Three patients operated on with successful removal of the malformation are discussed here. PMID:7444736

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

1980-11-01

144

MRCP of congenital pancreaticobiliary malformation  

Microsoft Academic Search

Background  Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma.\\u000a Currently, magnetic resonance cholangiopancreatography (MRCP) is one of the first choices for investigating and diagnosing\\u000a pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and endoscopic retrograde cholangiopancreatography\\u000a (ERCP) in making the diagnosis of congenital pancreaticobiliary malformations.\\u000a \\u000a \\u000a \\u000a Methods  In patients with pancreas divisum (n = 17),

T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata

2007-01-01

145

[Disorders of morphogenesis: genua recurvata as a deformity in various pathogenetic abnormality syndromes (Larsen syndrome, Greig polysyndactylia syndrome, partial trisomy 10q, myelomeningocele)].  

PubMed

Following the new classification of malformation syndromes genua recurvata in four newborns with pathogenetically different genetic syndromes (Larsen syndrome, Greig-polysyndactyly-syndrome, partial trisomy 10q and myelocele) have to be classified as a result of deformation. Genua recurvata in our patients are not symptoms caused by a specific syndrome, but have to be interpreted as a sequence. PMID:6090758

Kunze, J; Aldenhoff, P; Kaufmann, H J

1984-01-01

146

Congenital malformations associated with anencephaly and iniencephaly  

Microsoft Academic Search

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in

T J David; A Nixon

1976-01-01

147

Abernethy malformation: a case report  

PubMed Central

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

2012-01-01

148

[Antiepileptic drugs and congenital malformations].  

PubMed

BACKGROUND In pregnant women with epilepsy the use of antiepileptic drugs may increase the risk of harming the foetus. For the treating neurologist it may be challenging to find a balance between optimal seizure control and the lowest possible drug dosage. The aim of this study was to assess the prevalence and type of congenital malformations in children exposed to antiepileptic drugs during pregnancy.MATERIAL AND METHOD In Norway we have prospectively followed 813 pregnancies in women with epilepsy as part of an international cohort study. The women had three check-ups during the pregnancy, and the children were followed up twice during their first year of life.RESULTS We found a total of 34 congenital malformations in the children, of which 12 were heart defects, yielding a malformation rate of 4.5 %. Six of the malformations (18 %) were detected prenatally, 20 (59 %) were reported immediately after birth, and eight (24 %) were discovered during the child's first year of life.INTERPRETATION Our study shows that 95.5 %.of the women included who used antiepileptic drugs during pregnancy gave birth to a healthy child. This Norwegian cohort is too small to evaluate the teratogenic risk associated with the individual drugs. PMID:24989202

Nakken, Karl O; Lillestølen, Kari Mette; Brodtkorb, Eylert; Svendsen, Torleiv; Haggag, Kathrine Johannessen; Taubøll, Erik

2014-07-01

149

Occult vascular malformations and seizures.  

PubMed

Occult vascular malformations are frequently associated with intractable seizures and are a common cause of lesional epilepsy. MR imaging can identify and characterize these lesions with accuracy. The presurgical evaluation must be tailored to the individual patient's presentation and circumstances. Surgical results following lesionectomy plus corticectomy may be slightly superior to lesionectomy alone, but the overall prognosis is excellent. PMID:10419577

Cosgrove, G R

1999-07-01

150

Reconstruction of middle ear malformations.  

PubMed

Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

Schwager, Konrad

2007-01-01

151

Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo

152

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.  

PubMed

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909

Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; Léauté-Labrèze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; González-Enseñat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka

2013-12-01

153

Arteriovenous malformation of the oral cavity.  

PubMed

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 tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070

Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit

2014-01-01

154

Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula  

Microsoft Academic Search

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct structures agenesis. Anorectal malformations are uncommonly associated with MRKH syndrome, and among them, rectovestibular fistula and cloacal malformations have been commonly described. H-type of anovestibular fistula associated with MRKH syndrome has not been reported previously. One such case along with its treatment is reported.

Jai Kumar Mahajan; M. A. Venkatesh; Monika Bawa; Katargadda L. N. Rao

2009-01-01

155

Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula.  

PubMed

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct structures agenesis. Anorectal malformations are uncommonly associated with MRKH syndrome, and among them, rectovestibular fistula and cloacal malformations have been commonly described. H-type of anovestibular fistula associated with MRKH syndrome has not been reported previously. One such case along with its treatment is reported. PMID:19635284

Mahajan, Jai Kumar; Venkatesh, M A; Bawa, Monika; Rao, Katargadda L N

2009-08-01

156

Amniotic band syndrome.  

PubMed

The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entangle or entrap various fetal parts in utero, leading to deformation, malformation, or disruption. This syndrome is given many names yet follows a clearly defined clinical pattern. Misdiagnosis and inappropriate family counseling are chronic features. This article reviews the clinical features of the amniotic band syndrome, its epidemiology, and the status of prenatal and neonatal diagnosis. The spectrum of malformations associated with amniotic bands is summarized and illustrated. Major etiologic theories are examined. It is recommended that the clinician involved in the delivery of any infant manifesting elements of this unusual combination of defects seek specialized consultation in the pursuit of an accurate and precise diagnosis and appropriate genetic counseling. PMID:7124837

Seeds, J W; Cefalo, R C; Herbert, W N

1982-10-01

157

A chromosomal deletion map of human malformations.  

PubMed Central

Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with nonmosaic single contiguous autosomal deletions. The 1,753 deletions involved 258 (89%) of 289 possible autosomal bands (by the use of ISCN 400-band nomenclature), giving a total of 4,190 deleted autosomal bands for analysis. We compared the band distributions of deletions associated with common major malformations with the distribution of all 1,753 deletions. We noted 283 positive associations between deleted bands and specific malformations, of which 199 were significant (P<.05, P>.001) and 84 were highly significant (P<.001). These "malformation-associated bands" (MABs) were distributed among 137 malformation-associated chromosome regions (MACRs). An average of 6 MABs in 2.9 MACRs were detected per malformation studied; 18 (6%) of 283 MABs contain a locus known to be associated with the particular malformation. A further 18 (6%) of 283 are in seven recognized specific malformation-associated aneuploid regions. Therefore, 36 (26%) of 137 of the MACRs contain an MAB coinciding with a previously recognized locus or malformation-associated aneuploid region. This map should facilitate identification of genes important in human development.

Brewer, C; Holloway, S; Zawalnyski, P; Schinzel, A; FitzPatrick, D

1998-01-01

158

Measurement of Normal and Reportedly Malformed Palatal Vaults. II. Normal Juvenile Measurements  

Microsoft Academic Search

SYNOPSIS IN INTERLINGUAMESURATION DE NORMAL E REPORTATEMENTE MALFORMATE VOLTAS PALATAL. 2. NORMAL MESURATIONES JUVENIL.—Le palatos de 1098 juveniles de Minnesota e de 224 adultos de Minneosta esseva mesurate in altura, latitude, e longor pro objectivos de comparation con le reportatemente alte o restringite palatos de subjectos con varie syndromes. Pro facilitar le comparationes, un indice de altura o restrictura relative

Robert S. Redman; Burton L. Shapiro; Robert J. Gorlin

1966-01-01

159

Split-hand/feet malformation in three tamilian families and review of the reports from India  

PubMed Central

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.

Amalnath, S. Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

2014-01-01

160

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.

1986-01-01

161

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

2004-01-01

162

Drug-Induced (Thalidomide) Malformations  

PubMed Central

Phocomelia (flipper-like limbs) has long been recognized as a rare malformation. Numerous cases of phocomelia and other congenital malformations have recently been reported in the United Kingdom, Australia, Europe and Canada in which the common factor appears to have been the administration of the hypnotic compound thalidomide during early pregnancy. Two additional cases of infants born with phocomelia, amelia and alimentary abnormalities are presented. In both of these cases the administration of thalidomide was initiated early during pregnancy (five to eight weeks after the last normal menstrual period) and maintained for several weeks. Thalidomide (alpha-phthalimido glutarimide) is related chemically to other glutarimides currently in clinical use. The possibility that these compounds and/or their metabolites may induce teratogenic effects warrants consideration. Emphasis is added to the view that caution should be exercised when prescribing new drugs. ImagesFig. 1Fig. 2

Ing, George M.; Olman, C. L.; Oyd, John R.

1962-01-01

163

Coexistence of cavernous hemangioma and other vascular malformations of the orbit. A report of three cases.  

PubMed

Coexistence of orbital cavernous hemangioma and other vascular malformations is unusual and few cases have been reported. We describe the clinical and radiological features of three cases of orbital cavernous hemangiomas associated with other vascular malformations, selected reviewing a series of 181 cases of cavernous hemangiomas. All patients were males (age ranging from 43 to 67 years) without vascular systemic disorders and/or a clinical syndrome. They experienced slow progressive exophthalmos. One of them developed acute pulsatile proptosis (case 2), while another experienced slow progressive diplopia (case 3). In one case vascular lesions were bilateral (case 3) and in two patients two different lesions coexisted in the same orbit (cases 1 and 2). All patients underwent surgical excision, which was partial in two cases. Two patients had cavernous hemangiomas in association with a venous malformation (a varix in case 1 and a lymphangioma in case 2), while in the other ones (case 3) cavernous hemangioma was associated with a low-flow arteriovenous malformation. No patient denied visual impairment postoperatively. Few cases of orbital cavernous hemangiomas coexisting with other vascular malformations have been reported in the literature. This entity seems to be an association of different variants of orbital vascular malformations, presenting with a wide spectrum of clinical forms and probably with the same pathogenesis. PMID:24750713

Strianese, Diego; Napoli, Manuela; Russo, Carmela; D'Errico, Arianna; Scotti, Nadia; Puoti, Gianfranco; Bonavolontà, Giulio; Tranfa, Fausto; Briganti, Francesco

2014-04-30

164

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

2013-01-01

165

A case of PAGOD syndrome with hypoplastic left heart syndrome  

Microsoft Academic Search

PAGOD syndrome is an extremely rare congenital malformation complex involving multiple organs. These include pulmonary artery and lung hypoplasia, diaphragm defects, omphalocele, sex reversal or ambiguous genitalia, and complex cardiac defects. Eight cases have been reported to date. We report a case of PAGOD syndrome that is manifested by right diaphragm eventration, horseshoe lung with right lung hypoplasia, hypoplastic left

Joon Bum Kim; Jeong-Jun Park; Jae Kon Ko; Hyun Woo Goo; Young Hwe Kim; In Sook Park; Tae Jin Yun; Dong Man Seo

2007-01-01

166

Intrauterine Growth Retardation Associated with Uterine Malformations  

PubMed Central

Intrauterine growth retardation is caused by factors that prevent adequate fetal nourishment or by factors that intrinsically affect the fetus. Limited available space due to a congenitally malformed uterus may prevent normal intrauterine development. Two cases are presented here. A review of the available literature confirms the tendency of women with congenital uterine malformations to have smaller offspring. Intrauterine growth retardation should be added to the more commonly known complications associated with a congenitally malformed uterus. ImagesFigure 1Figure 2

Poma, Pedro A.

1982-01-01

167

Noncardiac Malformations at Major Congenital Heart Defects  

Microsoft Academic Search

.   Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known\\u000a chromosomal anomaly, data on 397 infants (15%) born during the period 1981–1990 with a major cardiac defect and at least one\\u000a noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of\\u000a noncardiac malformations except for

P. Pradat

1997-01-01

168

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

169

Chiari malformation and sleep related breathing disorders  

PubMed Central

Objective To estimate the frequency, mechanisms and predictive factors of sleep apnoea syndrome (SAS) in a large group of children and adults with type I (CMI) and II (CMII) Chiari malformation (CM). Background The anatomical and functional integrity of both respiratory circuits and lower cranial nerves controlling the upper airway is necessary for breathing control during sleep. These latter structures may be altered in CM, and a few investigations have reported CM related sleep disordered breathing. Methods Forty?six consecutive unrelated patients with CM (40 CMI, six CMII), of which 20 were children (eight males) and 26 were adults (12 males), underwent physical, neurological and oto?rhino?laryngoscopic examination, MRI and polysomnography. Results SAS was present in 31 (67.4%) of the patients with CM (70% of CMI, 50% of CMII, including mainly children). Sixty per cent of children with CM exhibited SAS, including 35% with obstructive (OSAS) and 25% with central (CSAS) sleep apnoea syndrome. SAS was observed in 73% of CM adults (57.7% OSAS, 15.4% CSAS). Severe SAS was found in 23% of CM adults. Multiple regression analysis revealed that age, type II Chiari and vocal cord paralysis predicted the central apnoea index. Conclusion SAS is highly prevalent in all age groups of patients suffering from CM. CSAS, a rare condition in the general population, was common among the patients with CM in our study. Sleep disordered breathing associated with CM may explain the high frequency of respiratory failures observed during curative surgery of CM. Our results suggest that SAS should be systematically screened for in patients with CM, especially before surgery.

Dauvilliers, Y; Stal, V; Abril, B; Coubes, P; Bobin, S; Touchon, J; Escourrou, P; Parker, F; Bourgin, P

2007-01-01

170

[Current diagnostic criteria of PHACES syndrome].  

PubMed

The PHACES syndrome refers to coexistence of the Posterior fossa brain malformations, (Segmental Haemangiomas) of the face with (Arterial anomalie) and midline raphe defects (Sternal defects or Supraumbilical raphe). The diagnostic criteria have not been precisely established and are still discussed by the experts. The authors present current knowledge on PHACE syndrome and discuss suggested diagnostic criteria of PHACE syndrome. PMID:22002046

Honkisz, Ireneusz; Szymik-Kantorowicz, Sabina; Prokurat, Andrzej

2011-01-01

171

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.  

PubMed

Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia. PMID:23778189

Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

2013-06-15

172

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation  

PubMed Central

AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.??

Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.

2000-01-01

173

Multiple Arteriovenous Malformations with Hemorrhage  

Microsoft Academic Search

Summary  \\u000a ?Background. A rare case of a left temporal arteriovenous malformation (AVM) with bleeding 10 days after removal of another hemorrhagic\\u000a AVM in the frontal lobe is reported.\\u000a \\u000a \\u000a \\u000a ?Method. A 47-year-old man had an attack of headache and vomiting and was admitted to our hospital. On admission, a CT scan showed\\u000a subcortical hemorrhage in the left frontal lobe. Left carotid

S. Utsuki; A. Kurata; Y. Miyasaka; M. Takano; H. Ootaka; K. Fujii

2002-01-01

174

Pulmonary varix mimicking arteriovenous malformation.  

PubMed

We report here a case of a 44-year-old female with a pulmonary varix. The patient was asymptomatic; a routine chest X-ray incidentally revealed a serpiginous mass in the left hilar region. Computed tomography revealed a serpiginous, dilated vascular structure in the left upper lobe that continued into the lower lobe and was suggestive of an arteriovenous malformation. Pulmonary angiography revealed no arterial abnormality; however, the filling of an abnormally dilated pulmonary vein was observed. Angiography is considered to be the most useful method for the confirmatory diagnosis of pulmonary varices. PMID:18164399

Kumazoe, Hiroyuki; Komori, Masashi; Ochiai, Reiji; Egashira, Ryoko; Nakazono, Takahiko; Kudo, Sho

2008-01-01

175

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.

2000-01-01

176

Neonatal status epilepticus controlled with levetiracetam at Sturge Weber syndrome.  

PubMed

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous syndrome characterized by facial cutaneous vascular malformation, leptomeningeal angioma and eye abnormalities. Seizures develop during the first year of life, may become refractory to multiple anticonvulsants and status epilepticus may develop. A rare subtype of Sturge-Weber syndrome with bilateral facial vascular malformation, unilateral cerebral involvement and neonatal status epilepticus is reported here. Neonatal status epilepticus was successfully controlled with intravenous levetiracetam infusion. PMID:22804835

Tanriverdi, Sema; Terek, Demet; Koroglu, Ozge Altun; Yalaz, Mehmet; Tekgul, Hasan; Kultursay, Nilgun

2013-04-01

177

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

PubMed

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

2013-02-01

178

Congenital bronchopulmonary foregut malformations: concepts and controversies  

Microsoft Academic Search

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions

Beverley Newman

2006-01-01

179

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

2011-01-01

180

Renal tract malformations: perspectives for nephrologists  

Microsoft Academic Search

Renal tract malformations are congenital anomalies of the kidneys and\\/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young

Larissa Kerecuk; Michiel F Schreuder; Adrian S Woolf

2008-01-01

181

Congenital patellar syndrome.  

PubMed

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy. PMID:19434325

Jerome, J Terrence Jose; Varghese, M; Sankaran, B

2009-01-01

182

The amniotic band syndrome.  

PubMed

The amniotic band syndrome is characterized by severe cranial malformations and constriction defects of the limbs, due to fibrous bands that encircle the developing fetus. The obstetric course is usually unremarkable. One out of every 5,000 newborns has this condition. It is not genetically based and therefore must be differentiated from other forms of birth defects. PMID:6829374

Fischer, P M; Biddinger, P; Drobnes, W E

1983-02-01

183

Noonan Syndrome  

PubMed Central

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.

BHAMBHANI, VIKAS; MUENKE, MAXIMILIAN

2014-01-01

184

Visual fixation in Chiari type II malformation.  

PubMed

Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks' parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152

Salman, Michael S; Sharpe, James A; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J

2009-02-01

185

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.

1997-01-01

186

Immunohistochemical and Microarray Analyses of a Mouse Model for the Smith-Lemli-Opitz Syndrome  

Microsoft Academic Search

The Smith-Lemli-Opitz syndrome is a mental retardation\\/malformation syndrome with behavioral components of autism. It is caused by a deficiency in 3?-hydroxysteroid-?7-reductase (DHCR7), the enzyme required for the terminal enzymatic step of cholesterol biosynthesis. The availability of Smith-Lemli-Opitz syndrome mouse models has made it possible to investigate the genesis of the malformations associated with this syndrome. Dhcr7 gene modification (Dhcr7–\\/–) results

H. Waage-Baudet; W. C. Dunty Jr.; D. B. Dehart; S. Hiller; K. K. Sulik

2005-01-01

187

Parental age as a risk factor for isolated congenital malformations in a Polish population.  

PubMed

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele. PMID:19228312

Materna-Kiryluk, Anna; Wi?niewska, Katarzyna; Badura-Stronka, Magdalena; Mejnartowicz, Jan; Wieckowska, Barbara; Balcar-Boro?, Anna; Czerwionka-Szaflarska, Mieczyslawa; Gajewska, Elzbieta; Godula-Stuglik, Urszula; Krawczy?ski, Marian; Limon, Janusz; Rusin, Jozef; Sawulicka-Oleszczuk, Henryka; Szwalkiewicz-Warowicka, Ewa; Walczak, Mieczyslaw; Latos-Biele?ska, Anna

2009-01-01

188

Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations  

PubMed Central

Background Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thoracic vertebral malformations as well as thoracic limb malformations resembling KFS with a concurrent type IV dermoid sinus. Case presentation A 1.5 year-old Dachshund with congenital thoracic limbs deformities and cervical-thoracic vertebral malformations presented with cervical hyperesthesia, rigidity of the cervical musculature and tetraparesis. Neurologic, radiographic, and computed tomography (CT) (2D, 3D, CT fistulography) examinations revealed skeletal anomalies, a dermoid sinus in the cranial thoracic region and epidural gas within the vertebral canal. Surgical resection and histopathological evaluation of the sinus tract were performed and confirmed a type IV dermoid sinus. The clinical signs progressively recovered postoperatively, and no recurrent signs were observed after 6 months of follow-up. Conclusions Cervical vertebral malformations associated with limbs anomalies have not been reported in dogs and may represent a condition similar to KFS in humans. KFS can occur concurrently with other congenital conditions including dermoid sinus and should be included among the complex congenital anomalies described in dogs.

2014-01-01

189

Klippel-Trenaunay syndrome: A rare cause of severe headache  

Microsoft Academic Search

Klippel-Trenaunay Syndrome (KTS) is a rare condition characterized by the triad of capillary malformations (port-wine stains),\\u000a venous malformations, and soft tissue and\\/or bony hypertrophy. Many patients with KTS have pain of the affected area of the\\u000a body. We report a unique KTS patient with multiple intraosseous calvarial venous malformations producing severe chronic headaches.

Abraham J. Sorom; David Driscoll; Anthony Stanson

2002-01-01

190

Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section  

PubMed Central

Patients with Klippel-Feil Syndrome (KFS) have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-year-old female, G2P1A0 with KFS (fusion of cervical vertebrae) who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiber-optic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS) is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III) precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus.

Shah, Tanmay H.; Badve, Manasi S.; Olajide, Kowe O.; Skorupan, Havyn M.; Waters, Jonathan H.; Vallejo, Manuel C.

2011-01-01

191

A gene map of congenital malformations.  

PubMed Central

Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.

Wilkie, A O; Amberger, J S; McKusick, V A

1994-01-01

192

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.  

PubMed

Recurrent 2q13 deletion syndrome is associated with incompletely penetrant severe cardiac defects and craniofacial anomalies. We used an atypical, overlapping 1.34 Mb 2q13 deletion in a patient with pathogenically similar congenital heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing six genes. To determine which of these genes is responsible for severe cardiac and craniofacial defects noted in the patients with the deletions, we used zebrafish morpholino knockdown to test the function of each orthologue during zebrafish development. Morpholino-antisense-mediated depletion of fibulin-7B, a zebrafish orthologue of fibulin-7 (FBLN7), resulted in cardiac hypoplasia, deficient craniofacial cartilage deposition and impaired branchial arch development. TMEM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development. Depletion of both fibulin-7B and TMEM87B resulted in more severe defects of cardiac development, suggesting that their concurrent loss may enhance the risk of a severe cardiac defect. We postulate that heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome. PMID:24694933

Russell, Mark W; Raeker, Maide O; Geisler, Sarah B; Thomas, Peedikayil E; Simmons, Tracy A; Bernat, John A; Thorsson, Thor; Innis, Jeffrey W

2014-08-15

193

The velo-cardio-facial (Shprintzen) syndrome  

Microsoft Academic Search

Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome\\u000a are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate,\\u000a cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties.\\u000a \\u000a The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly

P. Meinecke; F. A. Beemer; A. Schinzel; T. Kushnick

1986-01-01

194

[Berdon syndrome (megacystis, microcolon, intestinal hypoperistalsis). Report of our cases].  

PubMed

Berdon syndrome is a rare congenital malformation that consists in megacystis and severe intestinal malformations that condition the prognosis in most of the cases. We report the three cases diagnosticated between 1976-2003. Diagnosis, therapeutics aspects and evolution are discussed. PMID:15264686

Beltrán Armada, J R; Serrano Durbá, A; Coronel Sánchez, B; Domínguez Hinarejos, C; Estornell Moragues, F; García Ibarra, F

2004-05-01

195

Multiple supernumerary teeth associated with bony malformations.  

PubMed

Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations. PMID:22524086

Kamatham, R; Sharada, J; Mohapatra, A; Nuvvula, S

2011-01-01

196

Early presentation of an extremity arteriovenous malformation.  

PubMed

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 treatment are discussed, together with a review of results in the literature. PMID:15544778

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

2004-12-01

197

Chiari malformation with thick occipital bone.  

PubMed

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

2011-02-01

198

Risk factors in internal urinary system malformations  

Microsoft Academic Search

Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five

C. Stoll; Y. Alembik; M. P. Roth; B. Dott; P. Sauvage

1990-01-01

199

Congenital pseudoarthrosis associated with venous malformation.  

PubMed

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. PMID:16967289

Al-Hadidy, A; Haroun, A; Al-Ryalat, N; Hamamy, H; Al-Hadidi, S

2007-06-01

200

Pineal Cavernous Malformations: Report of Two Cases  

PubMed Central

Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease.

Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou

2005-01-01

201

Pineal cavernous malformations: report of two cases.  

PubMed

Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease. PMID:16385664

Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou; Choi, Joong-Uhn

2005-12-31

202

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.

2012-01-01

203

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

PubMed

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

2004-01-01

204

Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management  

PubMed Central

The co-occurrence of congenital diaphragmatic hernia (CDH) and cardiovascular malformations (CVMs) has important clinical, genetic, and developmental implications. Previous examinations of this topic often included patients with genetic syndromes. To correct this potential bias, we undertook an extensive review of the literature and obtained new data. The frequency of CVMs associated with isolated CDH was 11–15%. A careful analysis of CVMs indicates that atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects were the most common type of CVMs, but proportional to the frequency of occurrence in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on survival from patients with a genetic syndrome has not been consistently evaluated. We encourage researchers to re-analyze existing series and recommend that future studies distinguish isolated CDH from that which is associated with other malformations, especially as part of genetic syndromes. Therapies should be tailored to maximize cardiac output and systemic oxygen delivery rather than systemic oxygen saturation alone. Although there is speculation about the frequency with which isolated left ventricular “hypoplasia” occurs in patients with CDH, we suggest it results from compression of a pre-load deficient left ventricle by the hypertensive right ventricle, and unlike true hypoplasia, is reversible. Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome.

Lin, Angela E.; Pober, Barbara R.; Adatia, Ian

2010-01-01

205

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.

2013-01-01

206

Genetics Home Reference: Craniofacial-deafness-hand syndrome  

MedlinePLUS

... is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present ... joint ; malformation ; mutation ; neural crest ; ocular hypertelorism ; protein ; sensorineural ; syndrome ; tissue You may find definitions for these ...

207

Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.  

PubMed

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis. PMID:23653874

Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

2013-01-01

208

Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy  

Microsoft Academic Search

Kabuki make-up syndrome is a mental retardation—malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. The incidence of seizures associated with this syndrome ranges from 10 to 40%. However, details of the seizures in this syndrome have not been adequately reported or thoroughly evaluated. In this study, we analyzed seizure characteristics and clinical

Atsushi Ogawa; Sawa Yasumoto; Yasuko Tomoda; Masaharu Ohfu; Akihisa Mitsudome; Yoshikazu Kuroki

2003-01-01

209

Joubert syndrome labeled as hypotonic cerebral palsy.  

PubMed

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations. PMID:24983287

Dekair, Lubna H; Kamel, Hussein; El-Bashir, Haitham O

2014-07-01

210

Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome)  

Microsoft Academic Search

Nevus sebaceous (NS) is a relatively common type of cutaneous lesion characterised by epidermal acanthosis and hyperplasia\\u000a of the sebaceous glands that, when coupled with extracutaneous manifestations (mostly of the central nervous, ocular or skeletal\\u000a systems), gives the name to a complex malformation syndrome (NS syndrome) first described by Jadassohn in 1895 and later recognised\\u000a as a neurocutaneous disorder by

Ignacio Pascual-Castroviejo; Martino Ruggieri

211

A child with Roberts syndrome.  

PubMed

Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome. PMID:21777535

Abbas, Rabia; Waqar, Sahar; Ahmad, Tahir Masood; Irfan Waheed, Khawaja Ahmad; Sultan, Tipu; Qureshi, Ahmad Usaid

2011-07-01

212

Vascular origin of Poland syndrome?  

Microsoft Academic Search

Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic increase in the arterial volume (Velm) was shown in the affected arms, and the

Jean-Pierre Bouvet; Denis Leveque; Francine Bernetieres; Jean-Jacques Gros

1978-01-01

213

Valproate teratogenicity and epilepsy syndrome  

Microsoft Academic Search

SUMMARY Maternal valproate (VPA) use is associated with a significant risk for congenital malformations in the exposed fetus. Since VPA is commonly used in epi- lepsy syndromes with a presumed genetic cause (idiopathic epilepsies), it is possible that maternal genetic background contributes to this outcome. We reviewed responses to telephone question- naires and medical records, when available, of enrollees in

Edward B. Bromfield; Barbara A. Dworetzky; Diego F. Wyszynski; Caitlin R. Smith; Elizabeth J. Baldwin; Lewis B. Holmes

2008-01-01

214

Debendox in early pregnancy and fetal malformation.  

PubMed Central

During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.

Fleming, D M; Knox, J D; Crombie, D L

1981-01-01

215

Cerebral arteriovenous malformations in children.  

PubMed

In spite of their congenital origin, only 18-20% of cerebral AVMs are diagnosed during infancy and childhood. Intracranial haemorrhage is the presenting clinical manifestation in 75-80% of paediatric patients and is associated with a high morbidity and mortality. The natural history of untreated cerebral AVMs in children is worse than in adults, in relation to a longer life expectation, a higher annual risk of AVM bleeding (3.2% vs. 2.2%) and a higher incidence of posterior fossa and basal ganglia AVMs, most of which present with massive haemorrhages. The surgical excision remains the treatment of choice for parenchymal AVMs in children; AVM complete removal is currently achieved in 70-90% of the patients. With the advent of new agents for endovascular management, preoperative AVM embolization has further improved surgical results. Stereotactic radiosurgery appears to be a successful treatment option in small or moderate sized AVMs. Recent studies have demonstrated low complication rates with this technique in paediatric patients. We reviewed our experience with 37 paediatric AVMs treated at the Section of Paediatric Neurosurgery of the Catholic University of Rome between 1980 and 1997. Twenty-three patients underwent surgery as the only treatment modality; endovascular embolization was combined with the surgical treatment in a further four cases. Radiosurgery was utilized as the only treatment in three patients and in combination with other techniques in an other three children (with surgery in one case and with AVM embolization in the remaining two subjects). No treatment was carried out in three patients because of excessively critical condition on admission; endovascular embolization failed in a further patient because of the anatomical complexity of the malformation. Previous studies have demonstrated a quite strict correlation between AVM complexity based on Spetzler and Martin's grading system and patients outcome. A less direct relationship has been observed in the present study. In our experience the factors which were more closely predictive of patients' outcome were the occurrence of an AVM bleeding and the neurological status on admission. In spite of the low number of cases in the single subsets of patients this study seems to support the role of AVM embolization and radiosurgery as effective adjuvant techniques in the management of cerebral AVMs in children. PMID:10795888

Di Rocco, C; Tamburrini, G; Rollo, M

2000-01-01

216

Joubert Syndrome and related disorders  

Microsoft Academic Search

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay\\/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1\\/80,000 and 1\\/100,000 live births, although these figures may represent an underestimate. The

Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente

2010-01-01

217

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

1996-01-01

218

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience  

SciTech Connect

The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

2013-06-15

219

Gastrointestinal perforations in neonates with anorectal malformations.  

PubMed

We describe the presentation and management of gastrointestinal perforation in four neonates with anorectal malformations. Two neonates with high malformation had pneumoperitoneum on X-ray; surgery revealed sigmoid perforation in one patient and transverse colon perforation in the other. Colostomy was done, followed by posterior sagittal anorectoplasty at four months; both recovered satisfactorily. The third neonate had no radiological feature of gut perforation but cecal perforation was found at surgery; the neonate recovered following right hemicolectomy with stoma followed by anorectoplasty at five months. The fourth neonate presented with clinical and radiological features of perforation and recovered satisfactorily after anoplasty and colostomy. PMID:15250569

Sharma, Shyam B; Gupta, Vipul; Sharma, Vinod

2004-01-01

220

Genome-wide copy number variation study in anorectal malformations.  

PubMed

Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy individuals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder. PMID:23108157

Wong, Emily H M; Cui, Long; Ng, Chun-Laam; Tang, Clara S M; Liu, Xue-Lai; So, Man-Ting; Yip, Benjamin Hon-Kei; Cheng, Guo; Zhang, Ruizhong; Tang, Wai-Kiu; Yang, Wanling; Lau, Yu-Lung; Baum, Larry; Kwan, Patrick; Sun, Liang-Dan; Zuo, Xian-Bo; Ren, Yun-Qing; Yin, Xian-Yong; Miao, Xiao-Ping; Liu, Jianjun; Lui, Vincent Chi-Hang; Ngan, Elly Sau-Wai; Yuan, Zhen-Wei; Zhang, Shi-Wei; Xia, Jinglong; Wang, Hualong; Sun, Xiao-bing; Wang, Ruoyi; Chang, Tao; Chan, Ivy Hau-Yee; Chung, Patrick Ho-Yu; Zhang, Xue-Jun; Wong, Kenneth Kak-Yuen; Cherny, Stacey S; Sham, Pak-Chung; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercè

2013-02-01

221

Anaesthetic management of a child with massive extracranial arteriovenous malformation  

PubMed Central

Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

Shamim, Faisal; Ullah, Hameed; Rehman, Azhar

2012-01-01

222

Genetics Home Reference: Multiple cutaneous and mucosal venous malformations  

MedlinePLUS

... help with understanding VMCM? angiogenesis ; autosomal ; autosomal dominant ; calcium ; cell ; cutaneous ; deficiency ; endothelial cells ; gene ; inflammation ; inherited ; kinase ; lesion ; malformation ; ...

223

Sturge-Weber Syndrome  

Microsoft Academic Search

\\u000a Sturge-Weber syndrome (SWS) (OMIM # 185300), also known as encephalofacial or encephalotrigeminal angiomatosis or meningofacial angiomatosis, is\\u000a a (usually) sporadic congenital neurocutaneous disorder affecting the cephalic venous microvasculature. The hallmark anomaly\\u000a is a capillary malformation affecting: (a) the brain and meninges with or without involvement of (b) the choroid and\\/or episclera\\u000a or conjunctive and (c) the skin (the latter typically

Ignacio Pascual-Castroviejo; Orhan Konez; Concezio Di Rocco; Martino Ruggieri

224

Maternal homocystinuria and Moebius syndrome? Vascular aetiology  

PubMed Central

A case of Moebius syndrome is reported in an infant of a mother known to have pyridoxine-unresponsive homocystinuria. The authors suggest that Moebius syndrome could result from early vascular insufficiency or disruption occurring early in development related to maternal homocystinuria. Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves and often in association with other malformations of the limbs and orofacial structures, but usually without gross structural brain abnormalities.

Gupta, N; Anthony, M Y

2011-01-01

225

Maternal homocystinuria and Moebius syndrome? Vascular aetiology.  

PubMed

A case of Moebius syndrome is reported in an infant of a mother known to have pyridoxine-unresponsive homocystinuria. The authors suggest that Moebius syndrome could result from early vascular insufficiency or disruption occurring early in development related to maternal homocystinuria. Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves and often in association with other malformations of the limbs and orofacial structures, but usually without gross structural brain abnormalities. PMID:22707369

Gupta, N; Anthony, M Y

2011-01-01

226

Associated malformations in patients with limb reduction deficiencies  

Microsoft Academic Search

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year

Claude Stoll; Yves Alembik; Beatrice Dott; Marie-Paule Roth

2010-01-01

227

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

1980-01-01

228

Hydromyelia and Chiari malformation in children and adolescents  

Microsoft Academic Search

A series of 24 patients with Chiari malformation and hydromyelia, treated at the Prince of Wales Children's Hospital between 1975 and 1991, is reviewed. The age range of these patients was 3 to 19 years. Eleven had a Chiari 1 malformation and 13 had a Chiari 2 malformation. The follow-up period ranged from 6 months to 16 years with a

R. F. C Jones; J. G. J Ayer; W. A Stening

1996-01-01

229

Spinal epidural angiomatous malformations draining into intrathecal veins  

Microsoft Academic Search

Nine angiomatous malformations situated on the outer surface of the dura and one situated in the pelvis, from which draining veins pierced the dura and joined the coronal venous plexus are described. The clinical manifestations and myelographic appearances are similar to those of the majority of intradural angiomatous malformations. This suggests that neurological deficiencies with both types of malformation are

B. E. Kendall; V. Logue

1977-01-01

230

Genetics of craniofacial development and malformation  

Microsoft Academic Search

The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many

Andrew O. M. Wilkie; Gillian M. Morriss-Kay

2001-01-01

231

Dural arteriovenous malformations associated with cerebral aneurysms  

Microsoft Academic Search

Only limited information is available concerning dural arteriovenous malformations (AVMs) found in association with cerebral aneurysms. The present report focuses on six such cases, concentrating attention on clinical characteristics and significance. Of a total of 46 dural AVMs encountered over a given period, six (13%) were linked with cerebral aneurysms. Particularly strong associations were noted for dural AVMs in the

Sachio Suzuki; Ryusui Tanaka; Yoshio Miyasaka; Akira Kurata; Makoto Takano; Kiyotaka Fujii; Hiroshi Takagi

2000-01-01

232

Cerebral arteriovenous malformation diagnosis and management.  

PubMed

Arteriovenous malformations of the brain can carry considerable morbidity and mortality in the setting of rupture. The complex angioarchitecture and hemodynamic alteration requires careful consideration in diagnostic and management approaches. In this review, the authors define the pathophysiology, outline diagnostic methods, and highlight current management approaches. PMID:24504610

Asif, Kaiz; Leschke, John; Lazzaro, Marc A

2013-11-01

233

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

1997-01-01

234

The management of asymptomatic congenital lung malformations  

Microsoft Academic Search

Congenital Pulmonary Airway Malformation (CPAM) and lung sequestration are often discovered on routine prenatal sonography. While some lesions may be large and cause serious complications in the fetus or newborn, many will be asymptomatic at birth. Some authors advocate simple observation because of the lack of data on the incidence of long-term complications. However, there are very few described cases

Jean-Martin Laberge; Ioana Bratu; Hélène Flageole

2004-01-01

235

Dural Sinus Malformation with Dural Arteriovenous Fistula  

PubMed Central

Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow arteriovenous of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.

Yau, C.Kwong; Alvarez, H.; Lasjaunias, P.

2001-01-01

236

Dural Sinus Malformation with Dural Arteriovenous Fistula  

PubMed Central

Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow AVS of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.

Yau, C.K.; Alvarez, H.; Lasjaunias, P.

2001-01-01

237

Angular craniometry in craniocervical junction malformation.  

PubMed

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

2013-10-01

238

Currarino syndrome and spinal dysraphism.  

PubMed

Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele. PMID:24745342

Kole, Matthew J; Fridley, Jared S; Jea, Andrew; Bollo, Robert J

2014-06-01

239

Aborting a malformed fetus: a debatable issue in saudi arabia.  

PubMed

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. PMID:24027674

Al-Alaiyan, Saleh; Alfaleh, Khalid M

2012-01-01

240

Treacher collins syndrome.  

PubMed

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. PMID:23633935

Chang, Christopher C; Steinbacher, Derek M

2012-05-01

241

Evidence for a link among cognition, language and emotion in cerebellar malformations.  

PubMed

We compared the neurobehavioral profiles of children with Joubert syndrome (JS participants), a rare autosomal recessive condition characterized on magnetic resonance imaging (MRI) by hypoplasia of the cerebellar vermis and midbrain-hindbrain malformations, and children with malformations confined to the cerebellar vermis and one or both hemispheres (Cerebellar malformations--CM participants). We aimed at investigating the influence of anatomo-clinical similarities (vermian malformation) and differences (intact cerebellar hemispheres vs sparing of the pons, respectively) with respect to cognitive, linguistic and emotional development, assuming as a reference framework the Cerebellar Cognitive Affective Syndrome (CCAS). Results show that severe to moderate mental retardation is infrequent in JS children, while it is present in more than half the sample of CM children. Affect development was generally preserved in JS, in high-functioning CM individuals and also in some of the CM children with moderate mental retardation, which raised questions as to the role of a cerebellar vermis lesion in determining affect disorders. Further, cognitive and linguistic profiles on both intellectual and neuropsychological evaluations provided evidence for distinct patterns of peaks and valleys in the two groups, with JS children being significantly more impaired in language and verbal working memory and CM individuals showing a significant impairment of executive functions and emotional development. The overall evidence provides support for an important role of cerebellar structures per se in shaping emotional, cognitive and linguistic development, when vermian lesions are associated to cerebellar hemispheric lesions. Cerebellar vermis and brainstem lesions instead appear to have a major impact on motor-related skills, including oro-motor abilities and verbal working memory. PMID:19857864

Tavano, Alessandro; Borgatti, Renato

2010-01-01

242

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome  

SciTech Connect

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J. [La Paz Hospital, Madrid (Spain)

1994-11-01

243

Congenital anal anomalies in two families with the Opitz G syndrome.  

PubMed Central

Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling. Images

Tolmie, J L; Coutts, N; Drainer, I K

1987-01-01

244

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

... a reddish net-like pattern on the skin (cutis marmorata). In some people with MCAP, excessive growth affects ... PIK3CA-Related Segmental Overgrowth Genetic Testing Registry: Megalencephaly cutis marmorata telangiectatica congenita M-CM Network: How is M- ...

245

Noonan syndrome.  

PubMed

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available. PMID:24444506

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

246

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

PubMed

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

2012-12-01

247

Hypoplastic left heart syndrome in PAGOD syndrome.  

PubMed

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami

2014-06-01

248

Isolated Horner's syndrome and syringomyelia  

PubMed Central

Although syringomyelia has been associated with Horner's syndrome, it is typically associated with other neurological findings such as upper limb weakness or numbness. A patient is described who had an isolated Horner's syndrome as the only manifestation of syringomyelia. A 76 year old woman was discovered to have right upper lid ptosis and right pupillary miosis. Neurological examination was unremarkable, and pharmacological testing was consistent with localisation of the lesion to a first or second order sympathetic neuron. Neuroimaging disclosed a Chiari I malformation with a syrinx extending to the C2 to C4 level. An isolated Horner's syndrome may be the presenting manifestation of syringomyelia.??

Kerrison, J.; Biousse, V.; Newman, N.

2000-01-01

249

[Localized cystic lymphatic malformation (or cutaneous lymphangiomas)].  

PubMed

Cutaneous cystic lymphatic malformations consist of dilatations of various sizes, developed from the lymphatic system. Various clinical presentations exist, which are more or less complex and severe. MRI is the best examination to determine the extent of deep lesions. Therapeutic decisions usually follow multidisciplinary consultations. In localized superficial forms, whether surgical excision or abstention is required. In macrocystic forms, sclerotherapy is the first-line treatment. PMID:21074349

Lorette, Gérard; Vaillant, Loïc; Wiersbicka, Ewa; Herbreteau, Denis

2010-12-01

250

Embolization and radiosurgery for arteriovenous malformations  

PubMed Central

The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution.

Plasencia, Andres R.; Santillan, Alejandro

2012-01-01

251

Jacobsen syndrome.  

PubMed

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 approximately 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. PMID:19267933

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

2009-01-01

252

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.

253

Complex malformation of the inferior vena cava.  

PubMed

Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422

Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D

2014-01-01

254

Congenital lung malformations: an ongoing controversy  

PubMed Central

Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management.

Burge, DM; Marven, SS

2013-01-01

255

Neuroembryology and brain malformations: an overview.  

PubMed

Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

Sarnat, Harvey B; Flores-Sarnat, Laura

2013-01-01

256

Two cases of Walker-Warburg syndrome complicated by hydrocephalus.  

PubMed

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. PMID:20516736

Preuss, M; Heckmann, M; Stein, M; Nestler, U

2010-01-01

257

Normal size left ventricle on antenatal scan in lethal hypoplastic left heart syndrome  

Microsoft Academic Search

We present a case of lethal hypoplastic left heart syndrome missed at routine 20-week antenatal ultrasound examination because the left ventricle was of normal size on the standard four-chamber cardiac view. Hypoplastic left heart syndrome includes a spectrum of cardiac malformations. This case illustrates the difficulty in excluding the diagnosis of hypoplastic left heart syndrome on a single view from

N. G. Anderson; J. Brown

1991-01-01

258

Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome  

Microsoft Academic Search

OBJECTIVE: Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with increased nuchal translucency (NT) demonstrate an aberrant lymphatic endothelial differentiation. METHOD: Fetuses with increased NT and normal karyotype (n

Y. M. de Mooij; N. M. van den Akker; M. N. Bekker; M. M. Bartelings; J. M. G. van Vugt; A. C. Gittenberger-de Groot

2011-01-01

259

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

2008-01-01

260

Malformations in neotropical viperids: qualitative and quantitative analysis.  

PubMed

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

2013-11-01

261

Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging  

Microsoft Academic Search

BACKGROUND: The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (par- amesonephric) ducts. This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome. METHODS: Fifty-three MRKH patients were investigated using a

Peter Oppelt; Stefan P. Renner; Anja Kellermann; Sara Brucker; Georges A. Hauser; Kurt S. Ludwig; Pamela L. Strissel; Reiner Strick; Diethelm Wallwiener; Matthias W. Beckmann

2005-01-01

262

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

2013-01-01

263

Intraosseous arteriovenous malformation of the sphenoid bone presenting with orbital symptoms mimicking cavernous sinus dural arteriovenous fistula: a case report.  

PubMed

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. PMID:24167809

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

2013-09-01

264

A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland  

Microsoft Academic Search

Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and

K. S. Kuehl; C. A. Loffredo

2006-01-01

265

Somatic activation of AKT3 causes hemispheric developmental brain malformations.  

PubMed

Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G?A, creating p.E17K) that was not present in the patient's blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralog in the brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to the brain could represent an important cause of complex neurogenetic disease. PMID:22500628

Poduri, Annapurna; Evrony, Gilad D; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K; Hills, L Benjamin; Heinzen, Erin L; Hill, Anthony; Hill, R Sean; Barry, Brenda J; Bourgeois, Blaise F D; Riviello, James J; Barkovich, A James; Black, Peter M; Ligon, Keith L; Walsh, Christopher A

2012-04-12

266

Anorectal Malformations: Finding the Pathway out of the Labyrinth.  

PubMed

Anorectal malformations (ARMs) are a complex group of congenital anomalies involving the distal anus and rectum, as well as the urinary and genital tracts in a significant number of cases. Most ARMs result from abnormal development of the urorectal septum in early fetal life. In most cases, the anus is not perforated and the distal enteric component ends blindly (atresia) or as a fistula into the urinary tract, genital tract, or perineum. ARMs are also present in a great number of syndromes and associations of congenital anomalies. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. All of this information is crucial in determining the most appropriate surgical approach for each case. Imaging studies play a key role in evaluation and classification of ARMs. In neonates, clinical and radiologic examinations in the first 3 days of life help determine the type of ARM and the need for early colostomy. In older children, preoperative pelvic magnetic resonance imaging is the most efficient diagnostic method for evaluating the size, morphology, and grade of development of the sphincteric musculature. PMID:23479709

Alamo, Leonor; Meyrat, Blaise J; Meuwly, Jean-Yves; Meuli, Reto A; Gudinchet, François

2013-01-01

267

Cervicofacial venous malformations. MRI features and interventional strategies.  

PubMed

Summary: We retrospectively evaluated 53 consecutive patients with cervicofacial venous malformation who had sclerotherapy. This review included a demographic analysis, MRI reexamination and tabulation of interventional therapeutic strategies. All patients whose MRI studies were included in this review demonstrated characteristic findings: space occupying lesion with hyperintense T2 signal abnormality, patchy contrast enhancement, and no flow signal on the gradient echo images.We concluded that a complete MRI work-up of these patients requires post-contrast scanning and gradient-echo imaging in addition to the standard T1 and T2 weighted spin echo imaging. The majority of patients had sporadic (non-familial) venous anomalies. Sinus pericranii (SP) was identified in six patients (11%) and blue rubber bleb nevus syndrome (BRBNS) was found in two patients (4%). MRI findings of sinus pericranii are discussed in detail. Although sodium tetradecyl and/or absolute ethanol are the most commonly used sclerosants, a wide variety of therapeutic strategies (depending on the nature of the abnormality) are also needed for these patients. PMID:20594480

Konez, O; Burrows, P E; Mulliken, J B

2002-09-30

268

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

2013-01-01

269

Retained Microcatheter after Onyx Embolization of Intracranial Arteriovenous Malformation  

PubMed Central

Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx.

Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong

2012-01-01

270

Retained microcatheter after onyx embolization of intracranial arteriovenous malformation.  

PubMed

Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969

Lee, Jae Il; Choi, Chang Hwa; Ko, Jun Kyeung; Lee, Tae Hong

2012-06-01

271

Associated malformations among infants with neural tube defects.  

PubMed

Infants with neural tube defects (NTDs) often have 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 NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2011-03-01

272

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.  

PubMed

Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns. They can be associated with additional structural cerebral anomalies, and recurrent phenotypic patterns have led to identification of recognizable syndromes. The lissencephalies are usually single-gene disorders affecting neuronal migration during cerebral cortical development. Polymicrogyria has been associated with genetic and environmental causes and is considered a malformation secondary to abnormal post-migrational development. However, the aetiology in many individuals with these cortical malformations is still unknown. During the past few years, mutations in a number of neuron-specific ?- and ?-tubulin genes have been identified in both lissencephaly and polymicrogyria, usually associated with additional cerebral anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cerebellar hypoplasia. The tubulin proteins form heterodimers that incorporate into microtubules, cytoskeletal structures essential for cell motility and function. In this study, we sequenced the TUBB2B and TUBA1A coding regions in 47 patients with a diagnosis of polymicrogyria and five with an atypical lissencephaly on neuroimaging. We identified four ?-tubulin and two ?-tubulin mutations in patients with a spectrum of cortical and extra-cortical anomalies. Dysmorphic basal ganglia with an abnormal internal capsule were the most consistent feature. One of the patients with a TUBB2B mutation had a lissencephalic phenotype, similar to that previously associated with a TUBA1A mutation. The remainder had a polymicrogyria-like cortical dysplasia, but the grey matter malformation was not typical of that seen in 'classical' polymicrogyria. We propose that the cortical malformations associated with these genes represent a recognizable tubulinopathy-associated spectrum that ranges from lissencephalic to polymicrogyric cortical dysplasias, suggesting shared pathogenic mechanisms in terms of microtubular function and interaction with microtubule-associated proteins. PMID:23361065

Cushion, Thomas D; Dobyns, William B; Mullins, Jonathan G L; Stoodley, Neil; Chung, Seo-Kyung; Fry, Andrew E; Hehr, Ute; Gunny, Roxana; Aylsworth, Arthur S; Prabhakar, Prab; Uyanik, Gökhan; Rankin, Julia; Rees, Mark I; Pilz, Daniela T

2013-02-01

273

Klippel-Trenaunay syndrome and cerebral Haemangiopericytoma: a potential association  

Microsoft Academic Search

Summary  Klippel-Trenaunay syndrome (KTS) a rare mesodermal phakomatosis consisting of capillary malformations, varicose veins, and\\u000a limb hypertrophy, often associated with vascular malformations and benign tumours. A 33-year-old male presented with headaches\\u000a secondary to a previously diagnosed intracranial tumour. He had a large blanching port-wine stain and hypertrophy of the left\\u000a side of his body and limbs partial syndactyly of the 2nd

M. S. Mathews; R. C. Kim; G. Y. Chang; M. E. Linskey

2008-01-01

274

Ocular manifestations of the Johanson-Blizzard syndrome.  

PubMed

Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive. The literature was reviewed to define the reported spectrum of ocular manifestations, which are not well documented. We found that nasolacrimal system malformations are a common feature of Johanson-Blizzard, whereas intraocular malformations are rare. This report describes the ophthalmologic findings and management of 2 affected children. PMID:19717322

Cheung, Jason C; Thomson, Hugh; Buncic, J Raymond; Héon, Elise; Levin, Alex V

2009-10-01

275

Cervical spine in Treacher Collins syndrome.  

PubMed

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

2012-05-01

276

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome.  

PubMed

Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly characterized by congenital hypotrichosis, peculiar facial gestalt, short metacarpals, interphalangeal swelling, and growth and mental retardation. Although skin manifestations represent a prominent NBS feature, no particular attention has been paid to this condition in the dermatologic literature. Here, we report on the sixth patient with NBS, who requested dermatologic evaluation because of congenital sparse scalp hair. An integrated approach that involved the dermatologist, clinical geneticist, and radiologist was crucial for diagnostic definition. Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis. PMID:19119135

Castori, Marco; Covaciu, Claudia; Rinaldi, Rosanna; Grammatico, Paola; Paradisi, Mauro

2008-11-01

277

Tracheal cartilaginous sleeve in Crouzon syndrome  

Microsoft Academic Search

Tracheal cartilaginous sleeve (TCS) is a congenital malformation characterized by fusion of the tracheal arches that may be isolated to a few tracheal arches, include the entire trachea, or extend beyond the carina into the bronchi. TCS has been reported only in children with craniosynostosis. Seven cases of TCS and Crouzon syndrome (CS) are mentioned in the literature. In addition

Sara C Scheid; Andrew R Spector; Jay D Luft

2002-01-01

278

The pathology of trisomy 13 syndrome  

Microsoft Academic Search

Anatomical and histopathological findings in 12 cases of trisomy 13 syndrome (nine with classic full trisomy and three with trisomy 13 and an unbalanced Robertsonian 13\\/13 translocation) are reported. Emphasis is on the brain defects, cardiovascular anomalies, and histological organ dysplasia. Eight patients showed abnormal development of the forebrain and midline facial structures (holoprosencephaly). Cardiovascular malformations were invariably present, the

Philippe Moerman; Jean-Piere Fryns; Kris Steen; Alice Kleczkowska; Joseph Lauweryns

1988-01-01

279

[Contraindication for cochlear implantation in Wildervanck's syndrome].  

PubMed

A case of 4-year-old boy with Wildervanck's syndrome and associated profound sensorineural hearing loss is presented. The child was disqualified from cochlear implantation following the CT scan of petrous pyramids which revealed inner ear malformation. The authors emphasize role of CT imaging in the management of profound sensorineural hearing loss in children before final qualification for cochlear implantation. PMID:15603393

Wojnowski, Waldemar; Obrebowski, Andrzej; Szyfter, Witold; Walczak, Marta; Karlik, Micha?; Kurywczak-Grykiel, Katarzyna

2004-01-01

280

Neurosurgical management of Walker-Warburg syndrome  

Microsoft Academic Search

The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomalrecessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All

J. F. Martínez-Lage; M. Poza; J. M. García Santos; Alberto Puche; Carlos Casas; Trinidad Rodriguez Costa

1995-01-01

281

Fetal acalvaria with amniotic band syndrome  

Microsoft Academic Search

A case of amniotic band syndrome (ABS) presenting with acalvaria is reported. ABS includes a spectrum of non-genetic anomalies, varying from simple digital band constriction to major craniofacial and visceral defects, and even fetal death. Acalvaria is a rare congenital malformation characterised by the absence of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones

Suresh Chandran; Meng Keang Lim; Victor Yu-Hei Yu

2000-01-01

282

Laser treatment of oral vascular malformations  

NASA Astrophysics Data System (ADS)

Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

2014-01-01

283

Endovascular management of spinal arteriovenous malformations.  

PubMed

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

2013-11-01

284

Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete  

PubMed Central

Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality.

Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

2013-01-01

285

Pediatric aneurysms and vein of Galen malformations  

PubMed Central

Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist.

Rao, V. R. K.; Mathuriya, S. N.

2011-01-01

286

Intraventricular Cavernous Malformation Radiologically Mimicking Meningioma  

PubMed Central

We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM.

Jin, Sung-Chul; Ahn, Jae-Sung; Kwon, Do Hoon

2008-01-01

287

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

2007-01-01

288

Animal Model for Cerebral Arteriovenous Malformation  

Microsoft Academic Search

Summary  \\u000a ?Background. The present study was conducted to establish an animal model for the investigation of the pathophysiology and haemodynamics\\u000a of cerebral arteriovenous malformation (AVM) but also to assess therapeutic aspects.\\u000a \\u000a \\u000a \\u000a ?Method. For anatomic and haemodynamic reasons, dogs were chosen as the animal model. An arteriovenous fistula was created by interposing\\u000a a segment of the superficial temporal artery between one

T. A. Pietilä; J. M. Zabramski; A. Thèllier-Janko; K. Duveneck; W. D. Bichard; M. Brock; R. F. Spetzler

2000-01-01

289

A Rare Case of the Lenz Syndrome  

PubMed Central

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.

T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima

2013-01-01

290

Adult Presentation of PHACES Syndrome  

PubMed Central

Summary A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.

Arora, S.S.; Plato, B.M.; Sattenberg, R.J.; Downs, R.K.; Remmel, K.S.; Heidenreich, J.O.

2011-01-01

291

[Molecular genetic background of developmental bony malformations at the craniocervical junction and cervical spine].  

PubMed

In this review a new interpretation of the origin of bony developmental malformations affecting the craniocervical junction and the cervical spine is presented based on recent advances in the understanding of embryonic development of the spine and its molecular genetic control. Radiographs, CT and MRI scans or CT myelograms of patients with Klippel-Feil syndrome were used for demonstration. Detailed clinical and radiological analysis of these patients was published earlier [David KM, Stevens JM, Thorogood P, Crockard HA. The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus 1999;6(6):1.]. Homeotic transformation due to mutations or disturbed expression of Hox genes is a possible mechanism responsible for Cl assimilation. Notochordal defects and/or signalling problems, that result in reduced or impaired Pax-1 gene expression, may underlie vertebral fusions. This, together with asymmetrical distribution of paraxial mesoderm cells and a possible lack of communication across the embryonic mid-line, could cause the asymmetrical fusion patterns. The wide and flattened shape of the fused vertebral bodies, their resemblance to the embryonic cartilaginous vertebrae and the process of progressive bony fusion with age suggest that the fusions occur before or, at the latest, during chondrification of vertebrae. The authors suggest that the aforementioned mechanisms are likely to be, at least in part, responsible for the origin of the bony developmental malformations affecting the craniocervical junction and the cervical spine. PMID:12201233

Károly, Dávid; Kasó, Gábor; Thorogood, Peter V; Stevens, John M; Crockard, H Alan

2002-07-20

292

Embolization of Vascular Malformations in Head and Neck Regions  

PubMed Central

Summary The purpose of this study is to determine the effectiveness of embolization of each type of vascular malformation. Thirty three patients with a diagnosis of vascular malformations in head and neck regions who were treated by embolization at Siriraj Hospital, Thailand, between 1997-2002 were reviewed retrospectively. There were 19 arteriovenous malformations (AVMs), two arteriolar-capillary types, ten venous malformations, one veno-lymphatic malformation and one mixed capillary and venous types. The goal of treatment is to restore function and to prevent bleeding complications with particularly good cosmetic results. The technique and therapeutic agents depended on the types and flow characteristics of each malformation. Transarterial embolization with N-butyl cyanoacrylate were used in AVMs, unless no arterial route approach, then direct puncture was tried. This was carried out in five patients with AVMs. Polyvinyl alcohol was used in two capillary lesions. All venous malformations were treated by absolute alcohol injection, percutaneously. All had good outcome without serious complications. Two patients had further plastic surgery, one was AVM of eyelid and the other was facial venolymphatic malformation. Embolization is considered to be the primary treatment by eradication of those abnormal vessels directly at the target, whereas delayed plastic surgery may be needed later.

Churojana, A.; Chiewwit, P.; Chuangsuwanich, A.; Aojanepong, C.; Chawalaparit, O.; Suthipongchai, S.

2004-01-01

293

Long term respiratory outcomes of congenital thoracic malformations.  

PubMed

The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631

Davenport, Mark; Eber, Ernst

2012-04-01

294

Congenital Malformations in Perinatal Autopsies - A Study of 100 Cases  

PubMed Central

Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings.

Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

2012-01-01

295

Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure  

Microsoft Academic Search

Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21

José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvão do Amaral Campos; Kenji Nishinari; Nelson Wolosker

2010-01-01

296

Variations of some elements in cadmium-induced malformed fish  

SciTech Connect

Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

Muramoto, S.

1981-08-01

297

Dandy-Walker malformation: prenatal diagnosis and prognosis  

Microsoft Academic Search

IntroductionThe difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made

O. Klein; A. Pierre-Kahn; N. Boddaert; D. Parisot; F. Brunelle

2003-01-01

298

Cerebral Arteriovenous Malformation Embolized through Persistent Primitive Hypoglossal Artery  

PubMed Central

Summary Carotid-vertebral anastomoses are commonly detected as incidental findings. But sometimes these channels are important for the clinical condition of the patient. Here a case of right thalamo-capsular arteriovenous malformation is described where a persistent primitive hypoglossal artery was the only route for embolization of the arteriovenous malformation.

Gupta, A.K.

2005-01-01

299

Congenital malformations in 4224 children conceived after IVF  

Microsoft Academic Search

BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall and specific congenital malformation rates calculated for IVF children (n 4224) and naturally conceived children (n 314 605),

S. Anthony; S. E. Buitendijk; C. A. Dorrepaal; K. Lindner; D. D. M. Braat; A. L. den Ouden

2002-01-01

300

Neuropsychological Features of Dementia due to Dural Arteriovenous Malformation  

Microsoft Academic Search

We report two patients aged 65 and 61 years, who presented a subacute dementia with normal CT scan without contrast injection. Angiography showed a dural arteriovenous malformation. The patients improved dramatically with treatment of the malformation. Dementia was characterised by frontal dysfunction, emotional disorders, mnesic and praxic impairment. This neuropsychological pattern suggests a profile of global dementia in the field

Assia Serradj Jaillard; Blandine Peres; Marc Hommel

1999-01-01

301

Childhood cerebrovascular diseases not associated with vascular malformations  

Microsoft Academic Search

Of 76 patients in the pediatric age group suffering from cerebrovascular diseases treated in the years 1970–1983, 26 patients (34%) did not harbor intracranial vascular malformations (aneurysms or arterovenous malformations). Two groups of patients were identified: (a) those suffering from a spontaneous intracranial hemorrhage (16 cases); (b) those suffering from an ischemic stroke (10 cases). Of those with spontaneous intracranial

C. Mazza; A. Pasqualin; P. Cavazzani; B. Dalla Bernardina; R. Pian

1985-01-01

302

Anthelmintic induced congenital malformations in sheep embryos using netobimin  

Microsoft Academic Search

Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per\\/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular

M. Navarro; C. Cristofol; A. Carretero; M. Arboix; J. Ruberte

1998-01-01

303

Chiari malformation type I: A new MRI classification  

Microsoft Academic Search

Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and

Talal A. Amer; Omran M. El-Shmam

1997-01-01

304

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

2003-01-01

305

Metabolic characteristics of cortical malformations causing epilepsy  

PubMed Central

Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity.

Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.

2009-01-01

306

Imaging in spine and spinal cord malformations.  

PubMed

Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis. PMID:15081131

Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo

2004-05-01

307

Embryonic development and malformation of lymphatic vessels.  

PubMed

In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425

Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria

2007-01-01

308

Sirenomelia and caudal malformations in two families.  

PubMed

We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. PMID:22522670

Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

2012-07-01

309

Congenital malformations, reproductive wastage and consanguineous mating.  

PubMed

A study was undertaken in Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, South India, to understand the relation between congenital developmental disorders and consanguinity and also reproductive wastage and consanguinity. Four hundred children with existing congenital developmental disorders were studied with regard to their consanguineous parentage and compared with 1,000 randomly selected patients attending the paediatric outpatient department. There was a significantly higher prevalence of consanguinity in the study group (p < 0.001) and greater frequency in rural areas. The common types of consanguineous marriages were between first cousins (50.6%) and uncle and niece (42.4%). Frequency of consanguinity was not significantly related to religion and caste. The mean coefficient of inbreeding was 0.056. Consanguinity had no significant effect on average pregnancy rate and reproductive wastage. The frequency of consanguinity was significantly higher especially with autosomal recessive disorders (p < 0.001), congenital heart diseases (p < 0.001), multiple malformations (p < 0.001), neurological malformations (p < 0.005), chromosomal disorders (p < 0.01), genitourinary disorders (p < 0.02) and mental retardation-developmental disorders (p < 0.02). These observations stress the need for communicating the deleterious effects of inbreeding to the public through regular health education. PMID:7684587

Jain, V K; Nalini, P; Chandra, R; Srinivasan, S

1993-02-01

310

Mid-hindbrain malformations due to drugs taken during pregnancy.  

PubMed

Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117

Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva

2014-04-01

311

Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation  

PubMed Central

Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk.

Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar

2013-01-01

312

Aggressive giant cystic lymphatic malformation in a newborn.  

PubMed

Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging. PMID:24292043

Cal??, Mert; Kona?, Ersoy; Takc?, ?ahin; Yurdakök, Murat; Tunçbilek, Gökhan

2013-01-01

313

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome  

PubMed Central

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome.

2014-01-01

314

Anesthetic considerations in a parturient with oral-facial-digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction.  

PubMed

Oral-Facial-Digital syndrome or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. In this case report, we describe the anesthetic management of a parturient with Oral-Facial-Digital syndrome type II and repaired tetralogy of Fallot with left ventricular dysfunction. PMID:24631061

McKinnie, J E; Abdullah, A N; Ramanathan, J

2014-05-01

315

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations.  

PubMed

The rate of malformations and major medical conditions in early childhood was analyzed in a single village according to the degree of relationship between the parents. In the village, 70-80% of the marriages are between descendants of the founders and therefore consanguineous. In the period 1992-2003, in 99 of 2,610 children, a major malformation was diagnosed at birth and seven additional fetuses were aborted because of a severe malformation. A significant medical condition was diagnosed in 38 additional children in early childhood. The total of 144 cases with malformations or a major medical condition represented 5.52% (95% CI: 4.64-6.4) of the live births. Three malformations/disorders were relatively frequent: Down syndrome, esophageal atresia, and profound deafness. The rate of malformations and significant medical conditions was 7.77% (95 CI: 5.68-9.86) when the parents were first cousins and 3.63% (95% CI: 2.11-5.15) when they were not related (P = 0.002, Fisher's exact test). Offspring of parents that were second cousins or closer but less than first cousin had a risk that was similar to the one of offspring of couples that were more distantly related. We propose therefore, that in inbred populations, all the couples that are not related as first cousins but in which the spouses are both descendants of the founders should be considered as related. The high prevalence of profound deafness in the village is due to mutations in the Connexin 26 gene, while the relatively high frequency of Down syndrome is not explained by maternal age only. PMID:20635393

Zlotogora, Joël; Shalev, Stavit A

2010-08-01

316

Caudal duplication syndrome.  

PubMed

Complete duplication of genitourinary system, colon and vertebral column is a very rare and complex congenital condition termed as "caudal duplication syndrome" with variable presentations. This term is often quoted as a type of incomplete separation of mono-ovular twins or conjoined twinning. It is associated with other congenital malformations of the genitourinary, gastrointestinal and other organ systems. The hereby reported case, a 3-month-old male infant had presented with the classical form of the disease i.e., duplication of the gastrointestinal, genitourinary system and vertebral column with anterior abdominal wall hernia and a large lipomeningocele. PMID:24411548

Ramzan, Muhammad; Ahmed, Shoaib; Ali, Salman

2014-01-01

317

Cri du Chat syndrome  

Microsoft Academic Search

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm\\u000a of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a\\u000a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics,\\u000a and severe psychomotor and mental retardation. Malformations,

Paola Cerruti Mainardi

2006-01-01

318

A Case of Prune Belly Syndrome.  

PubMed

Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. PMID:23639747

Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

2013-04-29

319

[The hand: embryology and main malformative mechanisms].  

PubMed

Upper limb bud appears in the cervical region of the embryo during the fifth week of development. It is made of epithelia and underlying mesenchyme. Diffusible growth factors, expressed by the apical ectodermal ridge, direct the proximal-distal growth. Other factors are expressed by zone of polarizing activity and ectoderm. They induce together anterior-posterior growth and dorsal-ventral polarity of the limb bud. The development of axial skeleton pattern is controlled by transcription factors from the HOX family, which are expressed in a stripe along the proximal and distal edges of the limb bud. Embryologic mechanisms of the main hand malformations are described, as well as their known genetic or mechanical aetiologies. PMID:18838286

Perrin, J; Geoffroy-Siraudin, C; Metzler-Guillemain, C

2008-12-01

320

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.

2004-01-01

321

Familial Dandy-Walker malformation and leukodystrophy.  

PubMed

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

1997-05-01

322

Diagnosis and management of pulmonary arteriovenous malformations  

PubMed Central

Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem.

Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

2002-01-01

323

[Chiari type 1 malformation and magnetic resonance imaging].  

PubMed

The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports. PMID:16327707

Masson, C; Colombani, J-M

2005-12-01

324

[A surgical case of tectal cavernous malformation presented by hydrocephalus].  

PubMed

We report a surgical case of tectal cavernous malformation presented by hydrocephalus. This 30-year-old man suffered from headache and nausea due to an obstructive hydrocephalus caused by a cavernous malformation in the tectum. Magnetic resonance (MR) images on admission showed a small lesion depicted as isointensity on the T1-weighted image, hyperintensity on the T2-weighted image, and accompanied with peripheral low-signal intensity rim, suggesting a tectal cavernous malformation. After admission, ventricular drainage was performed and the patient's symptoms improved immediately. He underwent a ventriculoperitoneal shunt ten days after the ventricular drainage. Postoperative CT scan showed an enlargement of the tectal mass with hemorrhagic change, but there was no deterioration in his neurological status. Cerebral angiography demonstrated no vascular stain or venous malformation. Microsurgical removal of the tectal mass was then performed via an occipital transtentorial approach. Histopathology proved a cavernous malformation and MR images at follow-up demonstrated total excision. Postoperatively, an upward gaze palsy appeared, but gradually improved within a month. Management strategy of brain stem cavernous malformation is controversial. Occasionally, brain stem hemorrhage may become critical. Therefore, we recommend aggressive surgical extirpation of symptomatic brain stem cavernous malformation, if it is accessible, if hemorrhage is present, and if the patient's condition permits it. PMID:11806112

Fujiwara, Satoshi; Ohta, Masahiro; Takeda, Tetsuji; Kohno, Kanehisa; Takechi, Akihiko; Kawada, Yasuchika; Shinohara, Naoki; Sasaki, Ushio

2002-01-01

325

Maternal hypothyroidism in early pregnancy and infant structural congenital malformations.  

PubMed

Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996-2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98-1.14). For anal atresia the RR was 1.85 (95% CI 1.00-1.85) and for choanal atresia 3.14 (95% CI 1.26-6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

Källén, Bengt; Norstedt Wikner, Birgitta

2014-01-01

326

Amplatzer vascular plugs in congenital cardiovascular malformations  

PubMed Central

Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.

Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

2013-01-01

327

Temporary umbilical loop colostomy for anorectal malformations.  

PubMed

Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137

Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

2012-11-01

328

A child with Beckwith-Wiedemann syndrome and posterior urethral valves.  

PubMed

Beckwith-Wiedemann syndrome is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihypertrophy, omphalocele, macroglossia and renal malformations. We report a child with Beckwith-Wiedemann syndrome and posterior urethral valves. Urethral valve resection was successfully performed under general anesthesia after voiding cystourethrography. This is the first report of Beckwith-Wiedemann syndrome associated with posterior urethral valves. PMID:15844777

Buyukcelik, M; Satar, N; Dursun, H; Bayazit, Y; Bayazit, A K; Soran, M; Noyan, A; Anarat, A

2005-01-01

329

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

2003-01-01

330

A new family with the Townes-Brocks syndrome.  

PubMed

We describe a new family with the Townes-Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes-Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes-Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) association. PMID:3180506

de Vries-Van der Weerd, M A; Willems, P J; Mandema, H M; ten Kate, L P

1988-09-01

331

[Carpal tunnel syndrome in children. Apropos of 4 personal cases].  

PubMed

Four cases of Carpal Tunnel syndrome during childhood are reported. Two of them are post traumatic cases; for one child, the syndrome was caused by hypertrophic cal six months after trauma. The other child has been operated because of a median and ulnar nerve deficit syndrome, which appeared one month after fracture. In the third observation, the authors have seen an abnormal muscle just in front of annular anterior ligament of the carpus during surgery. This muscle was assimilated to hypertrophic Palmaris Brevis muscle. In the last observation, the adolescent had a Poland syndrome with Sprengel malformation. In this paper, the authors point out clinical particularities due to musculo-tendinous malformation which can lead to Carpal Tunnel syndrome. PMID:2091841

Brax, P; Destuynder, O; Rigaud, P; Ridoux, P E; Gille, P

1990-01-01

332

Maternal diabetes mellitus and congenital malformation. Survey of 205 cases.  

PubMed Central

Twenty-five out of 205 (i.e. 12%) babies born to diabetic mothers in the Birmingham Maternity Hospital in the period 1969-1974 were malformed as against 6% in a control group. The incidence was highest in the group where mothers were on insulin at the time of conception (17 out of 117, i.e. 15%). No correlation was observed between major malformation in this group and age of onset or duration of the diabetes, progressive vascular complications, maternal age, or parity. Cardiovascular malformations were over-represented.

Day, R E; Insley, J

1976-01-01

333

Otosclerosis associated with type B-1 inner ear malformation  

PubMed Central

Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.

De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

2010-01-01

334

[Giant venous malformation of the tongue: the value of Surgiflo].  

PubMed

Cavernous hemangiomas are rare congenital venous malformations having propensity for the head and neck. These venous malformations, especially the large and intraoral ones, may cause severe symptoms requiring aggressive treatment. Today, the main treatment is based on sclerotherapy, associated or no with surgery. We report on a patient presenting an enormous venous malformation of the face and tongue, which was treated successfully in our department by embolization, sclerotherapy and maxillo-facial surgery, with a special focus on Surgiflo in our technique. PMID:20399053

Slaba, S; Braidy, C; Sader, R B; Hokayem, N; Nassar, J

2010-06-01

335

Goldenhar Syndrome - Review with Case Series  

PubMed Central

Goldenhar’s syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar’s syndrome, where almost all the classical signs of this rare condition were present.

Sreenivasan, Arathi; Saraswathy, Gopal K

2014-01-01

336

Goldenhar syndrome - review with case series.  

PubMed

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523

Ashokan, C Seethalakshmi; Sreenivasan, Arathi; Saraswathy, Gopal K

2014-04-01

337

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

2005-01-01

338

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.

2010-01-01

339

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].  

PubMed

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 type a to d. LCHa are related with mutation in LIS1 or DCX, LCHb with mutation of RELN gene, and LCHd could be related with TUBA1A gene. Polymicrogyria encompass a wide range of clinical, aetiological and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria showed a linkage to chromosome Xq28 in some pedigrees, and mutations in SRPX2 gene in others conditions. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of BPNH 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. Based on this experience, a detailed phenotype analysis is needed to develop the most efficient research on MCD in the future. PMID:18808783

Bahi-Buisson, N; Boddaert, N; Saillour, Y; Souville, I; Poirier, K; Léger, P-L; Castelnau, L; Plouin, P; Carion, N; Beldjord, C; Chelly, J

2008-12-01

340

Mesenteric lymphatic malformation associated with acute appendicitis: a case report  

PubMed Central

Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.

2009-01-01

341

Limited PCB Antagonism of TCDD-Induced Malformations in Mice.  

National Technical Information Service (NTIS)

Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potentia...

R. E. Morrissey M. W. Harris J. J. Diliberto L. S. Birnbaum

1992-01-01

342

Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation  

PubMed Central

Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision.

Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.

2003-01-01

343

Robotic-assisted anorectal pull-through for anorectal malformations  

Microsoft Academic Search

Background\\/purposeMany reports have addressed the feasibility and safety of using robotic surgery in children. To our knowledge, no published report has described the use of a surgical robot in the repair of anorectal malformations (ARMs).

Abdulrahman AlBassam; Abdulmonem Gado; Mohammed Saquib Mallick; Mohammed AlNaami; Weaam Al-shenawy

2011-01-01

344

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

2009-01-01

345

Detachable balloon occlusion of vascular malformations in young patients.  

PubMed

Two patients (11 and 23 months old, respectively) had successful transcatheter occlusion of congenital arterio-venous or veno-venous malformations using detachable silicone balloons. Patient 1 with a cervicofacial hemangioma had selective embolization of the feeding artery with two balloons. Patient 2, with a veno-venous malformation between a systemic vein and pulmonary vein also had selective embolization of the lesion with two balloons. Follow-up examinations confirm a successful outcome in both cases. PMID:8894781

Sreeram, N; Miller, P; John, P

1996-10-11

346

Posterior nutcracker phenomenon in patient with renal arteriovenous malformation.  

PubMed

A 31-year-old woman was referred to our hospital because of gross hematuria. Radiologic examinations with computed tomography and magnetic resonance imaging revealed renal arteriovenous malformation in the right kidney and an entrapped retroaortic left renal vein. Because the patient was free of hematuria, she refused additional treatment for economic reasons. Renal arteriovenous malformation associated with the posterior nutcracker phenomenon is a very rare condition. PMID:23031411

Qin, Jie; Zheng, Xiang-Yi; Jiang, Hai

2012-12-01

347

Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia  

Microsoft Academic Search

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis\\u000a has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital\\u000a malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in\\u000a Mainz from 1977 to

S. Berger; P. Ziebell; M. Kessler; S. Hofmann-von Kap-herr

1998-01-01

348

Lymphatic malformations: A dilemma in diagnosis and management  

PubMed Central

Lymphatic malformations of the head and neck, also known as lymphangiomas or cystic hygromas, are a diverse group of lesions. Lymphangiomas represent benign hamartomatous tumors of lymphatic vessels with a marked predilection for the head, neck and oral cavity. These lesions, like most of the swellings occurring in the neck, frequently pose a dilemma in diagnosis and treatment. This is a case report of a lymphatic malformation which presented as a painless mass in the lower border of mandible.

Ramashankar; Prabhakar, Chandan; Shah, Nishit Kumar; Giraddi, Girish

2014-01-01

349

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.

1972-01-01

350

Orbital venous-lymphatic malformations (lymphangiomas) mimicking cavernous hemangiomas  

Microsoft Academic Search

PURPOSE: To illustrate that orbital venous-lymphatic malformations (lymphangiomas) may rarely simulate cavernous hemangiomas.METHODS: Retrospective case review.RESULTS: Five patients were identified from a series of 85 patients with venous-lymphatic malformations. The age range was 21 to 69 years, and all cases presented with a history of slowly progressive or long-standing proptosis. Computerized tomography revealed relatively homogeneous intraconal masses that were well

Dinesh Selva; Diego Strianese; Giulio Bonavolonta; Jack Rootman

2001-01-01

351

Results of Norwood's operation for lesions other than hypoplastic left heart syndrome  

Microsoft Academic Search

Norwood's operation provides satisfactory palliation for neonates with hypoplastic left heart syndrome. The dominant physiologic features of hypoplastic left heart syndrome, ductal dependency of the systemic circulation and parallel pulmonary and systemic circulations, are shared by a multitude of other less common congenital heart malformations. Theoretically, these should be equally amenable to palliation by Norwood's operation. Between January 1990 and

Marshall L. Jacobs; Jack Rychik; John D. Murphy; Susan C. Nicolson; James M. Steven; William I. Norwood

1995-01-01

352

Metric Analysis of the Hard Palate in Children with Down Syndrome--A Comparative Study  

ERIC Educational Resources Information Center

The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed

Bhagyalakshmi, Gopalan; Renukarya, Annappa Jai; Rajangam, Sayee

2007-01-01

353

A new paradigm for West syndrome based on molecular and cell biology  

Microsoft Academic Search

Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. Both are located in the human chromosome Xp22 region and are mainly expressed and play roles in fetal brain. Moreover, several genes responsible for brain malformations including lissencephaly, which is frequently associated with West

Mitsuhiro Kato

2006-01-01

354

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.  

PubMed

The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition. PMID:19938094

Brockmann, Knut; Backes, Heiko; Auber, Bernd; Kriebel, Thomas; Stellmer, Franziska; Zoll, Barbara

2009-12-01

355

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

2000-01-01

356

Sleep Spindle Alterations in Patients with Malformations of Cortical Development  

PubMed Central

Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep.

Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.

2009-01-01

357

Pathophysiology of increased cerebrospinal fluid pressure associated to brain arteriovenous malformations: The hydraulic hypothesis  

PubMed Central

Background: Brain arteriovenous malformations (AVMs) produce circulatory and functional disturbances in adjacent as well as in remote areas of the brain, but their physiological effect on the cerebrospinal fluid (CSF) pressure is not well known. Methods: The hypothesis of an intrinsic disease mechanism leading to increased CSF pressure in all patients with brain AVM is outlined, based on a theory of hemodynamic control of intracranial pressure that asserts that CSF pressure is a fraction of the systemic arterial pressure as predicted by a two-resistor series circuit hydraulic model. The resistors are the arteriolar resistance (that is regulated by vasomotor tonus), and the venous resistance (which is mechanically passive as a Starling resistor). This theory is discussed and compared with the knowledge accumulated by now on intravasal pressures and CSF pressure measured in patients with brain AVM. Results: The theory provides a basis for understanding the occurrence of pseudotumor cerebri syndrome in patients with nonhemorrhagic brain AVMs, for the occurrence of local mass effect and brain edema bordering unruptured AVMs, and for the development of hydrocephalus in patients with unruptured AVMs. The theory also contributes to a better appreciation of the pathophysiology of dural arteriovenous fistulas, of vein of Galen aneurismal malformation, and of autoregulation-related disorders in AVM patients. Conclusions: The hydraulic hypothesis provides a comprehensive frame to understand brain AVM hemodynamics and its effect on the CSF dynamics.

Rossitti, Sandro

2013-01-01

358

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling  

PubMed Central

Congenital aortic valve stenosis (AVS), coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) are congenital cardiovascular malformations that all involve the left ventricular outflow tract (LVOT). They are presumably caused by a similar developmental mechanism involving the developing endothelium. The exact etiology for most LVOT malformations is unknown, but a strong genetic component has been established. We demonstrate here that mutations in the gene NOTCH1, coding for a receptor in a developmentally important signaling pathway, are found across the spectrum of LVOT defects. We identify two specific mutations that reduce ligand (JAGGED1) induced NOTCH1 signaling. One of these mutations perturbs the S1 cleavage of the receptor in the Golgi. These findings suggest that the levels of NOTCH1 signaling are tightly regulated during cardiovascular development, and that relatively minor alterations may promote LVOT defects. These results also establish for the first time that AVS, COA and HLHS can share a common pathogenetic mechanism at the molecular level, explaining observations of these defects co-occurring within families.

McBride, Kim L.; Riley, Maurisa F.; Zender, Gloria A.; Fitzgerald-Butt, Sara M.; Towbin, Jeffrey A.; Belmont, John W.; Cole, Susan E.

2008-01-01

359

Complications caused by cerebral arteriovenous malformation embolization.  

PubMed

We describe the complications of endovascular embolization for cerebral arteriovenous malformations (AVMs). 164 consecutive patients with AVMs treated by endovascular embolization between 1998 and 2003 were retrospectively reviewed. Over a five-year period, 292 embolization procedures were performed in 164 patients with embolization as the primary treatment modality (n=126) or as an adjunct to surgery (n =14) or radiosurgery (n=24). There were a total of 15 (9.1% per patient, 5.1% per procedure) complications in this series, of which 14 were clinically significant (8.5% of patients, 4.8% per procedure), and one was a technical complication (0.6% of patients, 0.3% per procedure). Excellent or good outcomes (Glasgow Outcome Scale ? 4) were observed in 136 (82.9%) patients at discharge. Neurological deficits (Glasgow Outcome Scale 1-4) as a direct result of embolization were 7.3% at discharge. In a single-center, retrospective, nonrandomized study, 82.9% of patients had excellent or good outcomes at discharge after AVM embolization, with a complication rate of 5.1%. PMID:24029089

Sun, Y; Lv, X; Li, Y; Li, A

2012-11-01

360

Stereotactic linac radiosurgery for arteriovenous malformations.  

PubMed Central

Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images

Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V

1992-01-01

361

Developmental biology and genetics of dental malformations.  

PubMed

The synthesis of tooth development biology with human studies focusing on inherited conditions that specifically interfere with tooth development is improving our understanding of normal and pathological tooth formation. The type of inherited dental malformations observed in a given kindred relate to when, during odontogenesis, the defective gene is critically expressed. Information about the protein encoded by the defective gene and the resulting dental phenotype helps us understand the major processes underway at different stages during tooth development. Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta. Late genes expressed during root formation (ALPL and DLX3) are associated with cementum agenesis (hypophosphatasia) and taurodontism. Understanding the relationships between normal tooth development and the dental pathologies associated with inherited diseases improves our ability to diagnose and treat patients suffering the manifestations of inherited dental disorders. PMID:17552940

Hu, Jan C-C; Simmer, James P

2007-05-01

362

Congenital Pulmonary Airway Malformation (Congenital Cystic Adenomatoid Malformation) with Multiple Extrapulmonary Anomalies: Autopsy Report of a Fetus at 19 Weeks of Gestation  

Microsoft Academic Search

Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal

Truc T. Pham; Kurt Benirschke; Eliezer Masliah; J. Thomas Stocker; Eunhee S. Yi

2004-01-01

363

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1\\/PIN2 and localizes to pericentromeric heterochromatin  

Microsoft Academic Search

The Townes-Brocks syndrome (TBS) is an auto- somal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Mutations in SALL1, a gene mapping to 16q12.1, were identified as a cause for TBS. To elucidate how SALL1 mutations lead to TBS, we have performed a series of functional studies

Christian Netzer; Leonie Rieger; Alessandro Brero; Chang-Dong Zhang; Markus Hinzke; Jürgen Kohlhase; Stefan K. Bohlander

2001-01-01

364

Lethal outcomes in Klippel-Trenaunay syndrome.  

PubMed

Klippel-Trenaunay syndrome (KTS) is an uncommon congenital angiodysplasia that manifests in infancy and is characterized by venous and lymphatic malformations of the skin, soft tissue, and bone causing limb hypertrophy. We report 2 patients with long-term KTS who developed lethal complications from uncommon and unusual manifestations. The 1st patient was a female with KTS who at 2 years of age underwent a below-the-knee amputation for a massively hypertrophied and malformed left foot. Two years later she required additional surgical removal of vascular malformations involving her left calf with extension to the groin, pubis, and ipsilateral abdomen. Fifteen years later she underwent splenectomy (400 g) revealing multifocal, cystically dilated vascular channels distorting the splenic architecture and died suddenly of massive intra-abdominal hemorrhage on the 2nd postoperative day. The 2nd patient was a 72-year-old male with long-standing KTS who presented with debilitating chronic penile and scrotal edema. Surgical excision of his lymphedematous scrotal and penile skin revealed a low-grade angiosarcoma arising in the setting of chronic lymphedema. The patient died shortly after surgery from massive hemorrhage due to traumatic rupture of malformed leg vessels. KTS may lead to significant morbidity and mortality, and pathologic consequences from long-term KTS have been rarely reported. These cases illustrate the risk of lethal hemorrhage, organomegaly from protracted vascular malformation, and development of vascular neoplasia associated with chronic lymphedema in KTS. PMID:23915076

Karunamurthy, Arivarasan; Pantanowitz, Liron; Lepe, Jorge Guzman; Reyes-Múgica, Miguel

2013-01-01

365

[Neuropsychological signs in patients with arteriovenous malformations, cavernomas and hematomas of cerebellum].  

PubMed

Neuropsychological assessment was performed in 13 patients with arteriovenous malformations and 12 with cavernomas and hematomas of cerebellum before and after surgery. In all patients we identified syndromes that were similar to the damage of different areas of neocortex (predominately frontal lobe). Apraxia and disturbance of verbal memory were the most frequent signs. Half of patients after AVM embolization and all patients after direct surgery developed deterioration of verbal memory. Some patients after manipulations on right cerebellar hemisphere had micrography and perseverations. There were no severe mental disorders neither before nor after surgery. That was controversial to other similar studies. The most severe cognitive disorders were found after surgery on superior cerebellar artery and its branches. PMID:20143609

Buklina, S B; Iakovlev, S B; Bukharin, E Iu; Khe?reddin, A S; Bocharov, A V; Sazonov, I A; Okishev, D N

2009-01-01

366

Case report of spontaneous hemorrhage in a sublingual arteriovenous malformation causing an emergent airway obstruction.  

PubMed

The literature is devoid of articles on spontaneous orofacial hemorrhage with hematoma formation without an underlying condition. Rupture of an arteriovenous malformation (AVM) is possibly the rarest form of spontaneous hemorrhage and life-threatening hematoma formation. This pathology is widely known because of its occurrence in the central nervous system, but it can appear in any location. AVM is not generally thought to be an inherited disorder, except in the context of a specific hereditary syndrome. AVMs can be seen using computerized tomographic angiography, but distraction angiography is the gold standard for diagnosis and treatment decision making. Surgery is the mainstay of treatment; however, endovascular embolization has become an important adjunct to surgical intervention. With shrinkage of the lesion or definitive treatment with coils, particles, or glue. Other important considerations in the choice of treatment are the patient's age, lesion size and location, and prior history of hemorrhage. PMID:22939328

Pickett, David O; Hudson, John W

2014-01-01

367

Blue rubber bleb nevus syndrome  

Microsoft Academic Search

Opinion statement  \\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Venous malformations of blue rubber bleb nevus syndrome (BRBNS) may involve any area of the gastrointestinal tract.\\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Gastrointestinal blood loss and anemia brings these patients to the attention of gastroenterologists.\\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Effective treatment of these malformations throughout the gastrointestinal tract requires aggressive management to ultimately\\u000a decrease blood loss and restore the patient’s hemoglobin to a near-normal

John M. Andersen

2001-01-01

368

Usefulness of Fetal Three-Dimensional Ultrasonography for Detecting of Congenital Heart Defects and Associated Syndromes  

Microsoft Academic Search

Congenital heart defects (CHDs) occur in 1% of live-born infants and frequently are associated with extracardiac malformations.\\u000a This study aimed to assess the feasibility and accuracy of three-dimensional ultrasonography (3DUS) in fetuses with CHD and\\u000a to investigate whether 3DUS can add information about the heart and general fetal morphology that shows other congenital malformations\\u000a or suggests syndromes. For 30 fetuses

Nadia Zabadneh; Claudia Santagati; Elena Reffo; Roberta Biffanti; Alessia Cerutti; Nicola Maschietto; Ornella Milanesi

2011-01-01

369

Neuropsychological Features and Risk Factors in Children With Sturge-Weber Syndrome: Four Case Reports  

Microsoft Academic Search

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and\\/or visual field cut. The four cases presented here (ages 8–9, two females) illustrate the broad range of physiologic involvement and associated neuropsychological functioning in SWS, and argue

T. Andrew Zabel; Jennifer Reesman; Ericka L. Wodka; Robert Gray; Stacy J. Suskauer; Elizabeth Turin; Lisa M. Ferenc; Doris D. M. Lin; Eric H. Kossoff; Anne M. Comi

2010-01-01

370

Gorlin-Goltz syndrome and neoplasms: a case study.  

PubMed

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias. PMID:21417126

Lopes, Nilza N F; Caran, Eliana M; Lee, Maria Lucia; Silva, Nasjla Saba; Rocha, André Caroli; Macedo, Carla R D

2010-01-01

371

Van der Woude Syndrome with Short Review of the Literature  

PubMed Central

Van der Woude syndrome (VWS) is a rare autosomal dominant condition with high penetrance and variable expression. Clinical manifestation of this autosomal dominant clefting syndrome includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. These congenital lip pits appear as a malformation in the vermilion border of the lip, with or without excretion. Discomfort caused by spontaneous or induced drainage of saliva/mucus when pressure is applied or during a meal as well as poor aesthetic match is one of the main complaints of patients with congenital lip fistula. The pits are treated by surgical resection. Dentists should be aware of the congenital lip pits as in Van der Woude syndrome because they have been reported to be associated with a variety of malformations or other congenital disorders. Here, the authors report a rare case of Van der Woude syndrome with short review of the literature.

Deshmukh, Pallavi K.; Deshmukh, Kiran; Mangalgi, Anand; Patil, Subhash; Hugar, Deepa; Kodangal, Saraswathi Fakirappa

2014-01-01

372

Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome.  

PubMed

An unusual case of cholelithiasis in an 18-month-old boy with cervico-oculo-acoustic (Wildervanck's) syndrome is presented. Our patient had Duane's retraction syndrome, Klippel-Feil anomaly and congenital deafness. To our knowledge this is the first case in which a probable association between cholelithiasis and Wildervanck's syndrome has been recorded. On the other hand, the presence of mutual malformations and anomalies such as scoliosis, ventricular septal defect, ectopic kidney, hydrocephalus, hypoplastic thumb and growth retardation seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. PMID:8241656

Kõse, G; Ozkan, H; Ozdamar, F; Kavukçu, S; Ozaksoy, D

1993-10-01

373

Epidemiology and natural history of arteriovenous malformations.  

PubMed

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

2001-01-01

374

Two-ventricle repair for hypoplastic left heart syndrome  

Microsoft Academic Search

Hypoplastic left heart syndrome encompasses a spectrum of structural cardiac malformations characterized by severe underdevelopment of the structures in the left heart-aorta complex. The severe end of the spectrum consists of aortic atresia and mitral atresia, whereas at the mild end patients have aortic valve and mitral valve hypoplasia without intrinsic valve stenosis, recently described as hypoplastic left heart complex.

Christo I. Tchervenkov

2001-01-01

375

Hypoplastic left heart syndrome and 45X karyotype  

Microsoft Academic Search

A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%)

H van Egmond; E Orye; M Praet; M Coppens; A Devloo-Blancquaert

1988-01-01

376

Prenatal diagnosis of acrania associated with amniotic band syndrome  

Microsoft Academic Search

BackgroundThe amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entrap or entangle various fetal parts in utero and can affect any organ or system and cause a single or multiple anomalies. The anomaly, acrania, is characterized by partial or complete absence of the calvarium with abnormal brain tissue development. Literature reports association

Verdelia Cincore; Anthanasios P Ninios; Jacqueline Pavlik; Chaur-Dong Hsu

2003-01-01

377

Defining anural malformations in the context of a developmental problem  

USGS Publications Warehouse

This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

Meteyer, C. U.; Cole, R. A.; Converse, K. A.; Docherty, D. E.; Wolcott, M.; Helgen, J. C.; Levey, R.; Eaton-Poole, L.; Burkhart, J. G.

2000-01-01

378

Local Model of Arteriovenous Malformation of the Human Brain  

NASA Astrophysics Data System (ADS)

Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

2013-02-01

379

Neu-Laxova syndrome: a case report.  

PubMed

Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393

Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z

2014-01-01

380

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation  

PubMed Central

Two hereditary syndromes, lymphedema-distichiasis syndrome (LD) and blepharo-chelio-dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re-implantation, mild intellectual impairment and apparent glomuvenous malformations. Distichiasis was present in three generations of the proband’s maternal side of the family. The glomuvenous malformations were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed glomuvenous malformations; no other family member could be tested. TIE2 sequencing revealed no mutations. In the proband, an additional submicroscopic 265 kb contiguous gene deletion was identified in 16q24.3, located 609 kb distal to the FOXC2 locus, which was inherited from the proband’s mother. The deletion includes the C16ORF95, FBXO31, MAP1LC3B, and ZCCHC14 loci and 115 kb of a gene desert distal to FOXC2 and FOXL1. Thus, it is likely that the microcephaly, distichiasis, vesicoureteral and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis-regulatory elements of FOXC2 expression.

Butler, Matthew G.; Dagenais, Susan L.; Garcia-Perez, Jose L.; Brouillard, Pascal; Vikkula, Miikka; Strouse, Peter; Innis, Jeffrey W.; Glover, Thomas W.

2012-01-01

381

Jugular Foraminal Stenosis in Crouzon Syndrome  

Microsoft Academic Search

We describe a 4-year-old boy with Crouzon syndrome, with associated acanthosis nigricans and Chiari-I malformation, who developed increased intracranial pressure necessitating posterior cranial expansion. Postoperatively, an arteriovenous fistula appeared over the mastoid region. Cerebral angiography demonstrated bilateral atresia of the jugular veins and occlusion of the left sigmoid and right transverse sinuses. We propose that increased intracranial venous pressure, secondary

Dolores Martinez-Perez; Douglas L. Vander Woude; Patrick D. Barnes; Michael Scott; John B. Mulliken

1996-01-01

382

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

2012-01-01

383

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

2007-01-01

384

Multiple vascular malformations in head and neck - Rare case report  

PubMed Central

Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas.

Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh

2014-01-01

385

Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol  

SciTech Connect

Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)

1997-07-15

386

Cranial malformations in related white lions (Panthera leo krugeri).  

PubMed

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

2010-11-01

387

Sudden death from ruptured choroid plexus arteriovenous malformation.  

PubMed

Brain vascular malformations are recognized as having potential to produce hemorrhage, but leading to sudden death in children is uncommon. Arteriovenous malformations may be situated in any region of the brain, but very rarely, they can be restricted to the choroid plexus. We report here a rare case of sudden death in a child, caused by a ruptured vascular malformation with an unusual location, which was not identified grossly but only on histological examination. The size and the location of the lesion, as well as the age of our patient, were contributing factors of the massive bleeding. Autopsy remains an important tool because it provides valuable information about the etiology of such bleedings, improves knowledge about these lesions, and enhances epidemiologic data. PMID:24781402

Cioca, Andreea; Gheban, Dan; Perju-Dumbrava, Dan; Chiroban, Ovidiu; Mera, Mihaela

2014-06-01

388

Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.  

PubMed

Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge. PMID:23215914

Manudhane, Aditi; Arora, Ritu; Kapoor, Seema; Rastogi, Anju; Goyal, Jawahar Lal

2013-01-01

389

[Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].  

PubMed

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

1997-01-01

390

A second locus for Rieger syndrome maps to chromosome 13q14  

SciTech Connect

Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14. 31 refs., 1 fig., 3 tabs.

Phillips, J.C.; Del Bono, E.A.; Pralea, A.M. [Tufts Univ., Boston, MA (United States)] [and others

1996-09-01

391

Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.  

PubMed

Fibroblast growth factor (FGF) signaling mutations are a frequent contributor to craniofacial malformations including midfacial anomalies and craniosynostosis. FGF signaling has been shown to control cellular mechanisms that contribute to facial morphogenesis and growth such as proliferation, survival, migration and differentiation. We hypothesized that FGF signaling not only controls the magnitude of growth during facial morphogenesis but also regulates the direction of growth via cell polarity. To test this idea, we infected migrating neural crest cells of chicken embryos with  replication-competent avian sarcoma virus expressing either FgfR2(C278F), a receptor mutation found in Crouzon syndrome or the ligand Fgf8. Treated embryos exhibited craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome. Consistent with our hypothesis, ectopic activation of FGF signaling resulted in decreased cell proliferation, increased expression of the Sprouty class of FGF signaling inhibitors, and repressed phosphorylation of ERK/MAPK. Furthermore, quantification of cell polarity in facial mesenchymal cells showed that while orientation of the Golgi body matches the direction of facial prominence outgrowth in normal cells, in FGF-treated embryos this direction is randomized, consistent with aberrant growth that we observed. Together, these data demonstrate that FGF signaling regulates cell proliferation and cell polarity and that these cell processes contribute to facial morphogenesis. PMID:23906837

Li, Xin; Young, Nathan M; Tropp, Stephen; Hu, Diane; Xu, Yanhua; Hallgrímsson, Benedikt; Marcucio, Ralph S

2013-12-20

392

Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest  

PubMed Central

Chiari in 1891 described a constellation of anomalies at the base of the brain inherited congenitally, the characteristic of which are (1) extension of a tongue of cerebellar tissue posterior to the medulla and cord that extends into the cervical spinal canal; (2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and (3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality. Chiari recognized four types of abnormalities. Presently, the term has come to be restricted to Chiari’s types I and II, that is, to cerebellomedullary descent without and with a meningomyelocele, respectively. The association of Arnold–Chairi malformation and high cervical cord infarction is unusual. The most common syndrome, anterior spinal artery syndrome (ASAS), is caused by interruption of blood flow to the anterior spinal artery, producing ischaemia in the anterior two-thirds of the cord, with resulting neurologic deficits. Causes of ASAS include aortic disease, postsurgical, sepsis, hypotension and thromboembolic disorders. The authors present an interesting case of cervical cord infarction due to anterior spinal artery thrombosis in a patient of type 1 Arnold–Chiari malformation without any of the above predisposing factors.

Wani, Abdul Majid; Zayyani, Najah R; Al Miamini, Wail; Khoujah, Amer M; Alharbi, Zeyad; Diari, Mohd S

2011-01-01

393

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension  

PubMed Central

The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb, and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder.

2014-01-01

394

ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS  

EPA Science Inventory

A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

395

Prenatal diagnosis of congenital renal and urinary tract malformations  

PubMed Central

Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified ­malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and ­requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through­out pregnancy and the prenatal diagnosis of their congenital malformations.

Hindryckx, A.; De Catte, L.

2011-01-01

396

Dandy Walker malformation and hypertrophic cardiomyopathy. Unusual fatal association.  

PubMed

Dandy Walker malformation (DWM) is a rare congenital brain anomaly characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis. Other extracranial anomalies can be associated, including cardiac defects. We report a rare patient with DWM associated with progressive heart failure secondary to hypertrophic cardiomyopathy. He was diagnosed at 2 months of age and died 5 months later. We conclude that hypertrophic cardiomyopathy can be associated with DWM with poor prognosis. A careful cardiac evaluation is needed in all infants with DWM for early recognition of such potentially serious associated cardiac malformations. PMID:21048653

Kurdi, Maher E; Chamsi-Pasha, Mohammed A; Baeesa, Saleh S; Jan, Mohammed M

2009-10-01

397

Incorporating Amphibian Malformation into Inquiry-Based Learning  

NSDL National Science Digital Library

Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.

Talley, Brooke L.

2007-01-01

398

Le syndrome d'apert  

PubMed Central

Le syndrome d'Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d'hypertension intracrânienne chronique responsable d'une cécité et d'une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection.

Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

2013-01-01

399

Cardiovascular malformation in infant deaths. 10-year clinical and epidemiological study  

Microsoft Academic Search

The infant mortality from cardiovascular malformations in a region with a population of 2 million inhabitants during a 10-year period has been studied. The study involved validation of the diagnoses and judgement whether the cardiovascular malformation was the dominating or a contributing cause of death. It is shown that the incidence of fatal cardiovascular malformations is probably overestimated in the

E Esscher; M Michaëlsson; B Smedby

1975-01-01

400

Arteriovenous malformation of the spermatic cord as the cause of acute scrotal pain: a case report  

Microsoft Academic Search

Arteriovenous malformations of the lower urinary tract are uncommon lesions, usually presenting as scrotal masses. A case of recurrent acute scrotal pain mimicking testicular torsion that was attributed to the presence of an arteriovenous malformation of the spermatic cord is described. To our knowledge this is the first reported case of an arteriovenous malformation of the spermatic cord presenting with

Petros Sountoulides; Athanasios Bantis; Irene Asouhidou; Hellen Aggelonidou

2007-01-01

401

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 that,…

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

2009-01-01

402

Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?  

PubMed

Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995

Istek, Seref

2014-01-01

403

Asperger Syndrome  

MedlinePLUS

NINDS Asperger Syndrome Information Page Condensed from Asperger Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Asperger Syndrome? Asperger syndrome (AS) is a developmental disorder. ...

404

Cushing's Syndrome  

MedlinePLUS

NINDS Cushing's Syndrome Information Page Synonym(s): Hypercortisolism Table of Contents (click to jump to sections) What is Cushing's Syndrome? Is ... is being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare ...

405

Fanconi syndrome  

MedlinePLUS

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome ...

406

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.  

PubMed

Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the gene FLNA, is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). Several mutations are recurrent, and all are clustered into four regions of the gene: the actin-binding domain and rod domain repeats 3, 10 and 14/15. Our findings contrast with previous observations that loss of function of FLNA is embryonic lethal in males but manifests in females as a localized neuronal migration disorder, called periventricular nodular heterotopia (PVNH; refs. 3-6). The patterns of mutation, X-chromosome inactivation and phenotypic manifestations in the newly described mutations indicate that they have gain-of-function effects, implicating filamin A in signaling pathways that mediate organogenesis in multiple systems during embryonic development. PMID:12612583

Robertson, Stephen P; Twigg, Stephen R F; Sutherland-Smith, Andrew J; Biancalana, Valérie; Gorlin, Robert J; Horn, Denise; Kenwrick, Susan J; Kim, Chong A; Morava, Eva; Newbury-Ecob, Ruth; Orstavik, Karen H; Quarrell, Oliver W J; Schwartz, Charles E; Shears, Deborah J; Suri, Mohnish; Kendrick-Jones, John; Wilkie, Andrew O M

2003-04-01

407

Structural evidence of injury or malformation in the brains of children with congenital heart disease.  

PubMed

Neurological and developmental deficits are common in children with congenital heart disease (CHD). These are due to multiple factors that include the etiology of the CHD, the effects of abnormal cardiovascular function, and the possible sequelae of open heart surgery. CHD is frequently part of a multiple malformation syndrome that includes the brain. The causes of these syndromes include known or putative genetic defects. Abnormal cardiovascular function may be associated with poor brain growth, embolic infarction, cerebrovascular thrombosis, and abscess formation. Perioperative neurological complications include diffuse hypoxic-ischemic injury (particularly in neonates who undergo more than 45 to 60 minutes of hypothermic circulatory arrest), cerebral macro- and micro-emboli, dural sinus thrombosis, and cerebral hemorrhage. Neuroimaging, especially magnetic resonance imaging, is a useful prognostic instrument, can easily display gross congenital and acquired lesions, and should be performed preoperatively in addition to genetic studies. In some instances poor brain function may not be predicted unless slow head growth or microcephaly is present and thorough preoperative neurodevelopmental evaluation is encouraged. PMID:10098226

Miller, G; Vogel, H

1999-03-01

408

The trisomy 18 syndrome  

PubMed Central

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.

2012-01-01

409

Klippel-Trenaunay syndrome and cerebral haemangiopericytoma: a potential association.  

PubMed

Klippel-Trenaunay syndrome (KTS) a rare mesodermal phakomatosis consisting of capillary malformations, varicose veins, and limb hypertrophy, often associated with vascular malformations and benign tumours. A 33-year-old male presented with headaches secondary to a previously diagnosed intracranial tumour. He had a large blanching port-wine stain and hypertrophy of the left side of his body and limbs partial syndactyly of the 2(nd) and 3(rd) digits in all four extremities. The lesion was surgically resected and histology showed a Haemangiopericytoma. Thus KTS may be associated with intracranial Haemangiopericytomas, a malignant vascular tumour. PMID:18297229

Mathews, M S; Kim, R C; Chang, G Y; Linskey, M E

2008-04-01

410

Congenital bilateral perislyvian syndrome: case report and review of literature.  

PubMed

Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535

Gowda, Anand K; Mane, Ranoji Shivaji; Kumar, Ashok

2013-10-01

411

Two-Staged Radiosurgical Treatment of Large Arteriovenous Malformations  

Microsoft Academic Search

When the size of an arteriovenous malformation (AVM) in any one direction is more than 4 cm, an attempt is made to treat it in two stages, separated by 6 months. The first stage treats one-half of the AVM and the remainder is treated in the second stage, thus giving rise to a higher prescription dose for each stage. Therefore,

Hideo D. Kubo; Richard B. Wilder; Conrad T. Pappas; John D. Earle; Robin L. Stern

2000-01-01

412

LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE  

EPA Science Inventory

C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...

413

Axial skeletal malformations induced by acetazolamide in rabbits.  

PubMed

In order to evaluate the teratogenic potential of acetazolamide in rabbits, three groups of 18 artificially inseminated females were treated orally with 50, 100, or 150 mg/kg/day of acetazolamide on days 6-18 of gestation. These doses induced maternal acidosis and electrolyte changes, consistent with those reported in rats and considered to be a result of carbonic anhydrase inhibition, as well as reductions in maternal body weight gain. At cesarean sections, average fetal body weights in the acetazolamide groups were dose-dependently decreased compared with controls. There were no effects of acetazolamide on embryonic survival or external morphology of live fetuses. In the fetal skeletal examination, thoracic and lumbar vertebral malformations occurred in 0.7%, 3.9%, and 6.1% of fetuses in the 50, 100, and 150 mg/kg/day groups, respectively, compared with none in the control group. In addition, missing vertebra was seen in a small number of fetuses in the 100 and 150 mg/kg/day groups. These axial skeletal malformations were, in some cases, associated with costal malformations. These results indicate that acetazolamide at maternotoxic doses can produce axial skeletal malformations in the rabbit. PMID:1412055

Nakatsuka, T; Komatsu, T; Fujii, T

1992-06-01

414

Molecular control of vertebrate limb development, evolution and congenital malformations  

Microsoft Academic Search

The vertebrate limb is a powerful model system for studying the cellular and molecular interactions that determine morphological pattern during embryonic development. Recent advances in our understanding of these interactions have shed new light on the molecular mechanisms of vertebrate limb development, evolution and congenital malformations. The transfer of information has, until recently, been largely one way, with developmental studies

Martin J. Cohn; Philippa E. Bright

1999-01-01

415

Fetal central nervous system malformations on MR images  

Microsoft Academic Search

Sonography is the method of choice for prenatal malformation screening but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal magnetic resonance imaging (MRI) is considered as a valuable second line imaging tool for confirmation, completion and correction of sonographic findings. Fetal MRI has proven its value in the evaluation of central nervous system

Izabela Herman-Sucharska; Monika Bekiesi?ska-Figatowska; Andrzej Urbanik

2009-01-01

416

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation  

PubMed Central

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.

Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.

2005-01-01

417

Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.  

PubMed

Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491

Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

2013-01-01

418

Congenital malformations and birthweight in areas with potential environmental contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins

2009-01-01

419

Congenital Malformations and Birthweight in Areas with Potential Environmental Contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris

1992-01-01

420

Congenital malformations of the central nervous system in spontaneous abortions  

Microsoft Academic Search

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found

M R Creasy; E D Alberman

1976-01-01

421

Cadmium induced malformation in eyes of Ambassis commersoni cuvier  

Microsoft Academic Search

Pathological manifestations in fishes from the polluted environment reflect the deleterious effects of environmental damage to higher animals in the food chain including man. Industrial and mining wastes containing cadmium ions induced several abnormalities and metabolic disorders in aquatic animals. Though cadmium is reported to be toxic to all tissues of animals, cadmium-induced malformations in eyes of fish have not

V. Pragatheeswaran; B. Loganathan; R. Natarajan; V. K. Venugopalan

1989-01-01

422

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

2012-01-01

423

Variable filling of an arteriovenous malformation during carotid angiography  

Microsoft Academic Search

Summary An 11-year-old girl was operated on for a frontal arteriovenous malformation in 1978; a postoperative carotid angiogram showed no filling of the AVM. The patient still had epilepsy. In 1981 a carotid angiogram showed no AVM. Some months later a new carotid angiography was done. In the first lateral series no AVM was seen but on the second injection

M. Porras; A. Servo; J. Jääskinen

1984-01-01

424

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: Hugh.Anderson@esht.nhs.uk

2007-11-15

425

[A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].  

PubMed

An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565

Lira, C; Hernández, G; Bolaños, J A

2003-06-01

426

An endodermal cyst: the result of a congenital intestinal malformation  

PubMed Central

A midline exploratory laparotomy on a 1-year-old, neutered male, West Highland terrier with a history of lethargy, anorexia, and intermittent vomiting revealed a cranial abdominal cyst. The lining of the excised cyst was histologically identical with that of the small intestine and may have represented an uncommon intestinal malformation.

Cooper, Johanna C.

2002-01-01

427

Late-Onset Congenital Cystic Adenomatoid Malformation of the Lung  

Microsoft Academic Search

Background: Congenital cystic adenomatoid malformation of the lung (CCAM) is an embryonic developmental anomaly of an unknown etiology usually diagnosed antenatally by imaging techniques. A minority of cases may not be identified by prenatal imaging techniques and may go unnoticed for the first 6 months of their extrauterine life. Due to its rarity, physicians are unlikely to suspect the condition.

Manel Luján; Montserrat Bosque; Rosa M. Mirapeix; M. Teresa Marco; Oscar Asensio; Christian Domingo

2002-01-01

428

The North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

The Northern Prairie Wildlife Research Center (NPWRC) has posted several more resources online. This article introduces readers to The North American Reporting Center for Amphibian Malformations and discusses availability and uses of the Center's databases and resources. The resource may be browsed online or downloaded as a .zip file.

Fowle, Suzanne C.; Johnson, Douglas H.; Jundt, Jeffrey A.

2000-01-01

429

Congenital malformations of the genital tract and their management  

Microsoft Academic Search

While congenital malformations of the genital tract are not common, the sequelae of their presence can be serious. The practising gynaecologist must be aware of the range of congenital abnormalities that may occur and the symptoms that may result from them. Failure to manage these patients correctly may have long-term sequelae for their psychological, sexual and reproductive health. The involvement

D. Keith Edmonds

2003-01-01

430

Seizures in Chiari I Malformation: A Clinical and Electroencephalographic Study  

Microsoft Academic Search

Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 ± 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most

Maurizio Elia; Roberto Biondi; Vito Sofia; Sebastiano A. Musumeci; Raffaele Ferri; Giuseppe Capovilla; Paolo Curatolo

1999-01-01

431

Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.  

PubMed

Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23543731

Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

2014-04-01

432

[Acetylcholinesterase: an additional test for diagnosis of fetal malformations].  

PubMed

From an observation of in utero suspected myelomeningocele, the authors underline interest of pattern of cholinesterases using acrylamide gel electrophoresis. The AChE isoenzyme band appears in some fetal malformations, particularly NTD. This biochemical test is considered as complementary of the AF alpha-fetoprotein assay. PMID:7276919

Guibaud, S; Simplot, A; Bonnet, M; Fara, J F; Thoulon, J M; Dumont, M; Guibaud, P; Robert, J M

1981-02-01

433

Case report: Ocular malformation with a 'double globe' appearance  

PubMed Central

Colobomatous cyst of the orbit is a rare congenital cystic malformation associated with ocular maldevelopment. Usually, the cyst is associated with a microphthalmic globe. We present a rare case of a unilateral large colobomatous cyst associated with a normal-sized globe, giving the appearance of a double globe on imaging.

Kim, Usha R; Arora, Vipul; Shah, Akash D; Srinivasan, KG

2009-01-01

434

Failed transarterial embolization of subserosal uterine arteriovenous malformation  

PubMed Central

Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured.

Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo

2013-01-01

435

Genes in genital malformations and male reproductive health  

Microsoft Academic Search

Abstract ,Genital malformations constitute the most common,birth defects encountered in man,and domes- tic animals. They occur more ,frequently in genetic males since the participation of many genes is required for sex differentiation to proceed in the male direction. The emerging insight, through the identification of genes involved in the sex differentiation cascade, is that over 85 percent of sex anomalies

P. K. Basrur; V. R. Basrur

436

Staged Gamma Knife Radiosurgery for Large Cerebral Arteriovenous Malformations  

Microsoft Academic Search

Background: We present our experience over a 10-year period of staged radiosurgery for large arteriovenous malformations (AVMs) including patient outcomes and methods. Methods: From July 2000 to December 2010, 80 patients with AVMs were treated with gamma knife radiosurgery (GKS) at our institution; of these patients, 5 were treated for large AVMs with staged GKS (volumes >20 cm3). The mean

Kwame Amponsah; Thomas L. Ellis; Michael D. Chan; J. Daniel Bourland; Stephen S. Glazier; Kevin P. McMullen; Edward G. Shaw; Stephen B. Tatter

2011-01-01

437

Brain Arteriovenous Malformations: Assessment with Dynamic MR Digital Subtraction Angiography  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Conventional catheter angiography (CCA) is the current reference standard for the diagnosis, assessment, and management of pial brain arteriovenous malformations (AVMs). The purpose of this study was to develop an MR angiographic tech- nique that produces dynamic images comparable to those provided by CCA and to apply the technique to the investigation of pial brain AVMs. METHODS:

Paul D. Griffiths; Nigel Hoggard; Daniel J. Warren; Iain D. Wilkinson; Bob Anderson; Charles A. Romanowski

438

Diffusion Tensor Imaging of Aicardi Syndrome  

PubMed Central

Aicardi syndrome is a congenital neurodevelopmental disorder associated with significant cognitive and motor impairment. Diffusion Tensor Imaging was performed on two subjects with Aicardi syndrome, as well as on two matched subjects with callosal agenesis and cortical malformations, but not a clinical diagnosis of Aicardi syndrome. Whole brain three-dimensional fiber tractography was performed, and major white matter tracts were isolated using standard tracking protocols. One Aicardi subject demonstrated an almost complete lack of normal cortico-cortical connectivity, with only the left inferior fronto-occipital fasciculus recovered by diffusion tensor tractography. A second Aicardi subject showed evidence of bilateral cingulum bundles and right uncinate fasciculus, but other cortico-cortical tracts were not recovered. Major subcortical white matter tracts, including corticospinal, pontocerebellar, and anterior thalamic radiation tracts, were recovered in both Aicardi subjects. In contrast, diffusion tensor tractography analysis on the two matched control subjects with callosal agenesis and cortical malformations recovered all major intrahemispheric cortical and subcortical white matter tracts. These results reveal a widespread disruption in the corticocortical white matter organization of individuals with Aicardi syndrome. Furthermore, such disruption in white matter organization appears to be a feature specific to Aicardi syndrome, and not shared by other neurodevelopmental disorders with similar anatomic manifestations.

Wahl, Michael; Strominger, Zoe A.; Wakahiro, Mari; Jeremy, Rita J.; Mukherjee, Pratik; Sherr, Elliott H.

2010-01-01

439

Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation.  

PubMed

Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos and/or vaginal atresia. Fetal autopsy findings on a 39 weeks' gestation including demonstration of corticotroph deficiency in the pituitary, along with the review of literature is being presented here. None of the earlier literature pertaining to PHS with hydrometrocolpos and/or vaginal atresia describes an intrauterine fetal demise due to corticotroph deficiency. PMID:22499313

Jaiman, Sunil; Nalluri, Himabindu; Aziz, Nuzhat; Kolar, Geeta

2012-01-01

440

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.  

PubMed

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. PMID:23713051

Alby, Caroline; Bessieres, Bettina; Bieth, Eric; Attie-Bitach, Tania; Fermont, Laurent; Citony, Isabelle; Razavi, Ferechté; Vekemans, Michel; Escande, Fabienne; Manouvrier, Sylvie; Malan, Valérie; Amiel, Jeanne

2013-07-01

441

Selected case from the arkadi m. Rywlin international pathology slide series: lymphangiomatosis of the spleen associated with ipsilateral abdominopelvic and lower extremity venolymphatic malformations: a case report and review of the literature.  

PubMed

Herein, we report a 26-year-old patient with lymphangiomatosis of the spleen associated with multiple lymphatic and venous malformations. This patient underwent excision of a large lymphatic malformation of the left abdominal wall during childhood. A venous malformation of her left lower limb was excised during adolescence. Additional lymphatic malformations were found in the soft tissue of her left thigh at the age of 20. During hospitalization for a huge vulvar hemangioma at the age of 26, she was incidentally found to have asymptomatic splenomegaly, for which she underwent splenectomy. Examination of the spleen revealed diffuse involvement by a lymphatic anomaly predominantly forming small cystic spaces. Lymphangiomatosis of the spleen is rare and is classically separated into an isolated or pure form and a generalized form when it is associated with involvement of other viscera and/or multiple soft-tissue planes. This patient was affected by a borderline form of splenic lymphangiomatosis with limited somatic involvement of the superficial soft tissues and blood vessels. Notably, all the additional vascular malformations in this patient were left sided, and at this time there was no additional involvement of internal organ. No hereditary or known syndrome was identified. PMID:24911254

Bisceglia, Michele; Chiaramonte, Antonio; Lauriola, Walter; Galliani, Carlos A; Musto, Pellegrino; Colacchio, Giovanni

2014-07-01

442

Genetics of syndromic and nonsyndromic cleft lip and palate.  

PubMed

Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital malformations in Western countries. Based on their association with specific malformative patterns or their presence as isolated defects, CL/P can be classified as syndromic and nonsyndromic, respectively. Both forms of CL/P are characterized by a strong genetic component. Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases. Among these, the Van der Woude syndrome, caused by mutation of the IRF6 gene, represents the commonest form of syndromic CL/P, accounting for about 2% of all cases. On the other hand, nonsyndromic CL/P is a multifactorial disease derived by the interaction between genetic and environmental factors. In recent years, great efforts have been made to identify the genes involved in the susceptibility to nonsyndromic CL/P and to disclose their relationship with specific environmental risk factors, to get information about the pathogenic mechanism leading to the malformation. In this article, we will review the most recent findings about the genes involved in the pathogenesis of syndromic and nonsyndromic CL/P, to provide information about the opportunity in the future to use specific genetic testing for the identification of at-risk mothers and the prevention of the disease based on a personalized approach. PMID:21959420

Stuppia, Liborio; Capogreco, Mario; Marzo, Giuseppe; La Rovere, Daniela; Antonucci, Ivana; Gatta, Valentina; Palka, Giandomenico; Mortellaro, Carmen; Tetè, Stefano

2011-09-01

443

Congenital pouch colon syndrome in a Saudi Arabian neonate.  

PubMed

Congenital pouch colon syndrome is partial or complete replacement of the colon by a pouch-like structure and anorectal malformation. Commonly reported from northern India, we believe this is the first report of congenital pouch colon syndrome in a Saudi Arabian neonate. He was referred with an imperforate anus and diagnosed as having a high anorectal malformation. The patient underwent a sigmoid colostomy. Continued abdominal distension after the colostomy prompted sonography and computed tomography, which showed an air- and fluid-containing cystic structure in the abdomen. Exploration revealed a thick-walled cystic structure in continuity with the distal colostomy and with a blood supply mainly from the superior mesenteric artery. The ureters were dilated and tortuous and the pouch opened into the posterior vesical wall. The pouch was resected and an end colostomy fashioned. The etiopathogenesis classification and management of the congenital pouch colon syndrome are discussed. PMID:18206446

Donkol, Ragab H; Jetley, Nishith Kumar; Al Mazkary, Mufareh H

2008-01-01

444

cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations  

PubMed Central

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

445

Congenital pulmonary malformations in pediatric patients: review and update on etiology, classification, and imaging findings.  

PubMed

Congenital pulmonary malformations represent a heterogeneous group of developmental disorders affecting the lung parenchyma, the arterial supply to the lung, and the lung's venous drainage. In both asymptomatic and symptomatic pediatric patients with congenital pulmonary malformations, the diagnosis of such malformations usually requires imaging evaluation, particularly in cases of surgical lesions for preoperative assessment. The goal of this article is to review the current imaging techniques for evaluating congenital pulmonary malformations and their characteristic imaging findings, which can allow differentiation among various congenital pulmonary malformations in pediatric patients. PMID:21889015

Lee, Edward Y; Dorkin, Henry; Vargas, Sara O

2011-09-01

446

Spontaneous resolution of a Chiari malformation Type I and syrinx after supratentorial craniotomy for excision of a cavernous malformation.  

PubMed

The pathogenesis of Chiari malformation Type I (CM-I) and associated syringomyelia is incompletely understood. Patients often present in middle age with incidental or minimally symptomatic CM-I, whose management is controversial. One option is clinical and radiographic observation of asymptomatic and minimally symptomatic patients. The authors here present the case of a 36-year-old woman who had been monitored for 6 years for a minimally symptomatic CM-I and cervicothoracic syrinx. After 5 years of follow-up, she suffered spontaneous rupture of a cerebral cavernous malformation when she was 27 weeks pregnant. The ruptured cavernous malformation and hematoma were operatively managed via a right frontal craniotomy. Ten months after the craniotomy for resection of the ruptured cavernous malformation, follow-up MRI demonstrated resolution of the CM-I and syrinx. Few similar cases have been reported in adults. This case argues for the presence of dynamic factors in the development and maintenance of CM-I and supports the nonoperative treatment of asymptomatic and minimally symptomatic patients. PMID:22324421

Miele, William R; Schirmer, Clemens M; Yao, Kevin C; Heilman, Carl B

2012-05-01

447

Tooth Enamel Hypoplasia in PHACE Syndrome.  

PubMed

Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age. PMID:24916277

Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

2014-07-01

448

[Di George syndrome, exemplary rhomboencephalic neurocristopathy].  

PubMed

Di George's syndrome associates hypocalcemia and hyperphosphoremia (phosphocalcic disorders from absence of the parathyroids), cell immunity disorders related to agenesis or hypoplasia of the thymus, and large vessels malformations (pulmonary artery, aorta) with cardiac lesions. The disorder is the result of deletion of rhomboencephalic neural crests cells, Di George's syndrome being an exemplary rhomboencephalic neurocristopathy. This organic syndrome is associated with early disorders of the same neurological region (the rhomboencephalon), expressed clinically by sucking and swallowing disturbances and cardiorespiratory regulatory disorders. Early rhomboencephalic lesions can