Intracranial Lipomas, Hydrocephalus and Other CNS Anomalies in Oculoauriculo-Vertebral Dysplasia (Goldenhar-Gorlin Syndrome)

Aleksic, Slobodan; Budzilovich, Gleb N.; Greco, M. Alba; McCarthy, James; Reuben, Richard N.; Margolis, Sheila; Epstein, Fred J.; Feigin, Irwin; Pearson, John

doi:10.1159/000120189

Cited by 31 publications

(27 citation statements)

References 12 publications

(14 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…CNS abnormalities reported include microcephaly, lipomas, hydrocephalus secondary to stenosis of the aqueduct of Sylvius, dilated lateral cerebral ventricles, corpus callosum agenesis/dysgenesis/hypoplasia, cerebellar hypoplasia, Arnold-Chiari malformation and encephaloceles (frontal and, especially, occipital). Cranium bifidum, holoprosencephaly, arhinencephaly, asymmetric lateral cerebral ventricles, absence of septum pellucidum, porencephalic cyst, cortical dysplasia, polymicrogiria, lisencephaly, dermoid cysts, teratomas, intracerebral calcifications, subependimary and choroid plexus cysts, cerebellar vermis hypoplasia/agenesis and Dandy Walker variant have also been observed, but they are rare 2,[4][5][6][7][8][11][12][13][14][15] . However, call attention the presence, in our sample, of three cases with cerebral hypodensities (two of them involving the frontal region and the other generalized).…”

Section: Discussionmentioning

confidence: 99%

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Rosa

Graziadio

Lenhardt

et al. 2010

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Objective: To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. Method: Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral. results: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%). conclusion: CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms. Key words: Goldenhar syndrome, facial asymmetry, central nervous system, eye abnormalities.Anormalidades do sistema nervoso central em pacientes com espectro óculo-aurículo-vertebral (síndrome de Goldenhar) resuMO Objetivo: Descrever as alterações do sistema nervoso central (SNC) presentes em uma amostra de pacientes com espectro óculo-aurículo-vertebral (EOAV), tentando correlacioná-las com os demais achados clínicos. Método: Foram avaliados dezessete pacientes com diagnóstico de EOAV. Todos apresentavam avaliação radiológica do SNC, cariótipo por bandas GTG normal e achados clínicos em pelo menos duas das quatro das seguintes áreas: oro-crânio-facial, ocular, auricular e vertebral. resultados: Alterações do SNC foram verificadas em oito dos dezessete pacientes (47%). Hipoplasia cerebral difusa, dilatação dos ventrículos cerebrais laterais (hidrocefalia assintomática), disgenesia do corpo caloso e hipondesidades frontais foram as anormalidades mais frequentes. A presença de anormalidades oftalmológicas foi a única associação clínica observada, sendo significativamente mais comum entre pacientes com alterações cerebrais (63% versus 11%). conclusão: Anormalidades do SNC são frequentes entre pacientes com EOAV, especialmente em portadores de alterações oftalmológicas. Entretanto, a ausência de anormalidades cerebrais detectáveis não exclui a possibilidade de que estes indivíduos venham subseqüentemente a apresentar sintomas neurológicos. Palavras-chave: síndrome de Goldenhar, assimetria facial, sistema nervoso central, anormalidades do olho.

show abstract

Section: Discussionmentioning

confidence: 99%

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Rosa

Graziadio

Lenhardt

et al. 2010

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Ear malformations probably would be missed in the chick, which has no external ear. In all these cases, there were frequent malformations of the brain and eye, as in severe cases of hemifacial microsomia (Aeksic et al, 1984). Very frequently associated malformations for hemifacial microsomia are abnormalities of the vertebrae (e.g., hemivertebrae), which are found in approximately 30% of cases (Gorlin et al, 1990).…”

Section: (E) Hemifacial Microsomiamentioning

confidence: 99%

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Johnston

Bronsky²

1995

Critical Reviews in Oral Biology & Medicine

115

View full text Add to dashboard Cite

Technical advances are radically altering our concepts of normal prenatal craniofacial development. These include concepts of germ layer formation, the establishment of the initial head plan in the neural plate, and the manner in which head segmentation is controlled by regulatory (homeobox) gene activity in neuromeres and their derived neural crest cells. There is also a much better appreciation of ways in which new cell associations are established. For example, the associations are achieved by neural crest cells primarily through ceil migration and subsequent cell interactions that regulate induction, growth, programmed cell death, etc. These interactions are mediated primarily by two groups of regulatory molecules, "growth factors" (e.g., FGF and TGFoc) and the so-called steroid/thyroid/retinoic acid superfamily. Considerable advances have been made with respect to our understanding of the mechanisms involved in primary and secondary palate formation, such as growth, morphogenetic movements, and the fusion/merging phenomenon. Much progress has been made on the mechanisms involved in the final differentiation of skeletal tissues.Molecular genetics and animal models for human malformations are providing many insights into abnormal development. A mouse model for the fetal alcohol syndrome (FAS), a mild form of holoprosencephaly, demonstrates a mid-line anterior neural plate deficiency which leads to olfactory placodes being positioned too close to the mid-line, and other secondary changes. Work on animal models for the retinoic acid syndrome (RAS) shows that there is major involvement of neural crest cells. There is also major crest cell involvement in similar syndromes, apparently including hemifacial microsomia. Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome. Most clefts of the lip and/or palate appear to have a multifactorial etiology. Genetic variations in TGFocs, RARocs, NADH dehydrogenase, an enzyme involved in oxidative metabolism, and cytochrome P-450, a detoxifying enzyme, have been implicated as contributing genetic factors. Cigarette smoking, with the attendant hypoxia, is a probable contributing environmental factor. It seems likely that few clefts involve single major genes. In most cases, the pathogenesis appears to involve inadequate contact and/or fusion of the facial prominences or palatal shelves. Specific mutations in genes for different FGF receptor molecules have been identified for achondroplasia and Crouzon's syndrome, and in a regulatory gene (Msx2) for one type of craniosynostosis. Poorly co-ordinated control of form and size of structures, or groups of structures (e.g., teeth and jaws), by regulatory genes should do much to explain the very frequent "mismatches" found in malocclusions and other dentofacial "deformities".Future directions for research, including possibilities for prevention, are discussed.

show abstract

“…In OAVS, the malformations of the CNS are frequent 23 . Hydrocephalus has been reported in 38.1% of pregnancies with OAVS children 24 and in some subjects of pediatric ages 25,26,27,28 . Low tension hydrocephalus was reported by Michaud and Sheridan 29 but, to our knowledge, hydrocephalus has never been found associated with precocious puberty in OAVS.…”

Section: Discussionmentioning

confidence: 99%

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

2014

View full text Add to dashboard Cite

The authors report on the first case of OAVS (Oculo-AuriculoVertebral-Spectrum), with hemifacial microsomy, hydrocephalus, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized). FISH and CGH-ARRAYS methods were negative. By GnRH therapy the delay of onset puberty was obtained. The authors ascribe facial and ovary asymmetry to a derangement of blastogenesis, during which axial right-left structures begin the develop with consequent migration or interation with surrounding tissues of neural crest cells and alteration of diencephalic pituitary systems. RiassuntoGli autori riportano il primo caso della letteratura di OAVS (OculoAuriculo-Vertebral-Spectrum) con asimmetria facciale, idrocefalo e pubertà precoce, con telarca insorto a 4 anni, perdite ematiche vaginali a 5 anni ed ovaio sn di tipo adulto, mentre il destro non era inizialmente visualizzato e negativi erano FISH e ARRAYS -CGH. Attribuiscono l'asimmetria facciale ed ovarica nella bambina ad un disturbo nella blastogenesi, epoca in cui si determinano gli assi corporei destro-sinistro, con successiva anomalia nella migrazione ed interazione delle cellule delle creste neurali con i tessuti ed in particolare con l'ipofisi ed il diencefalo.Segnalano i risultati positivi ottenuti sul rallentamento della pubertà mediante preparati a base di Gn RH.Oculo-auriculo-vertebral spectrum (OAVS) is relatively common condition, involving the structures derived from the branchial arches, but also other organs 1 We report on the first case of OAVS with precocious puberty. Family history of the patient, a female, included an aunt of her grandmother with right eye proptosis and microphthalmia, her mother with hearing loss, a brother with right hemifacial microsomia and right eye slight than left. The mother showed precocious cessation of menstruations (at 35 years of age). The patient was born by caesarean section, birth weight was 3150 gr, head circumference 38 cm. The baby presented respiratory distress, bilateral pes talo-valgus, feeding difficulties in the first months of life delayed developmental milestones, and frequent otitis. At 1 years 7 months of life, physical examination showed a female (Fig.1) in the 75 th percentile for height and in the 90 th percentile for weight (Italian growth charts). Frontal bossing, right eye microphthalmia with eyelid ptosis and strabismus were present. Palpebral fissures showed slight antimongoloid slant; eye movements were normal bilaterally. The face was asymmetric, with hemifacial microsomia, the chin was receding; mild malar hypoplasia, and the right ear set at a lower level than the left one were present. Ears presented bilaterally simple, with hypoplastic lobules, and were low set (Fig.2). Nasal root was flat and nasal pyramid was downturned. Malocclusion due to mandibular asymmetry, macrostomia, overjet and difficulties in chewing and swallowing were present. Teeth were small with some enamel dysplasias. The voice was na...

show abstract

Intracranial Lipomas, Hydrocephalus and Other CNS Anomalies in Oculoauriculo-Vertebral Dysplasia (Goldenhar-Gorlin Syndrome)

Cited by 31 publications

References 12 publications

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Prenatal Craniofacial Development: New Insights On Normal and Abnormal Mechanisms

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

Contact Info

Product

Resources

About