A family with autosomal dominant oculo-auriculo-vertebral spectrum

Tasse, Christiane; Majewski, F.; Böhringer, Stefan; Fischer, Sven; Lüdecke, Hermann‐Josef; Gillessen‐Kaesbach, Gabriele; Wieczorek, Dagmar

doi:10.1097/mcd.0b013e328010d313

Cited by 82 publications

(86 citation statements)

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“…This syndrome was observed with high frequency in children born to diabetic mothers, and to mother who used thalidomide, cocaine, or retinoids, during pregnancy 33 . In some families, a dominant or recessive autosomal inheritance was reported, while in others OAVS was sporadic 14 . Various chromosome rearrangements or deletions were reported in associations with OAVS, (chromosomes 1,5,6,8,18,22) 23 .…”

Section: Discussionmentioning

confidence: 99%

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

2014

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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...

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Section: Discussionmentioning

confidence: 99%

“…However, chromosome mutations do not seem to be a relevant cause of OAVS 14 . No chromosome abnormality was reported in the present case.…”

Section: Discussionmentioning

confidence: 99%

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

2014

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“…The most common type is limbal and may be associated with the auriculo-oculo-vertebral syndrome (Goldenhar). 11 Occasionally these dermoids may be extensive and may even invade the anterior chamber. 12 Generally speaking, limbal dermoids may be removed by shaving or by performing lamellar keratoplasty.…”

Section: Corneal Structural Defectsmentioning

confidence: 99%

Congenital corneal opacities – a surgical approach to nomenclature and classification

Nischal

2007

Eye

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“…Se encontró que el uso de medicación vasoactiva en el primer trimestre, particularmente en combinación con el consumo de cigarrillos, se asociaba con un aumento del riesgo de MHF; también se asociaron otros eventos como gestaciones múltiples, diabetes, sangrado durante el segundo trimestre y fuerte consumo de alcohol. 15 Dentro de las causas genéticas, si bien la mayoría de los casos son esporádicos, en algunos casos se ha observado un componente genético autosómico dominante (asociado al cromosoma 14), 16,17 un componente autosómico recesivo 18 y alteraciones cromosómicas, principalmente en los cromosomas 5 (deleción de 5p), 18 (trisomía) y 22 (deleción de 22q11.2), entre otros. 19,20 Other authors suggest this relationship between lack of migration of cells of the neural crest and HFM because in the absence of these cells there is less vascular endothelial growth factor (VEGF).…”

Section: Introductionunclassified

“…The use of vasoactive medication in the first quarter, particularly in combination with smoking, was found to be associated with an increase in the risk of HFM; other factors were also associated, such as multiple gestations, diabetes, bleeding during the second quarter, and intensive alcohol consumption. 15 Within the genetic causes, even though most cases are sporadic, in some cases there has been an autosomal dominant genetic component (associated with chromosome 14), 16,17 …”

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Microsomía hemifacial. Revisión de la literatura

Méndez

Agurto

Leiva

2016

Rev Fac Odontol Univ Antioq

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ABSTRACT. Hemifacial microsomia is the second congenital malformation in prevalence, after cleft lip and palate, and is described as a congenital alteration of the first and second branchial arches. As a condition of wide spectrum, its characteristics are expressed in many different INTRODUCCIÓNLa microsomía hemifacial (MHF) corresponde a un espectro de malformaciones congénitas craneofaciales caracterizadas por la hipoplasia de los tejidos derivados embriológicamente del primer y el segundo arcos branquiales. Su manifestación es altamente variable, presentando defectos incluso a nivel cardiaco, vertebral y del sistema nervioso central.Es la segunda malformación craneofacial más común después de la fisura de labio y paladar, con una incidencia estimada de 1/5.600 nacidos vivos. 1 Se presenta unilateral en un 70% de los casos, y cuando aparece en forma bilateral, se presenta en forma asimétrica, afectando más a un lado que otro. 2Al ser una alteración compleja y heterogénea, los pacientes con alteraciones pertenecientes a este espectro han recibido distintos diagnósticos, como Síndrome de Goldenhar, espectro óculo-aurículo-vertebral, síndrome del primer y el segundo arcos branquiales, microsomía craneofacial, entre otros. Aún no se ha establecido un criterio diagnóstico común para dicha entidad. 3Su patogénesis obedece a un carácter heterogéneo explicado por diferentes teorías. 4 Una de ellas es la propuesta por Poswillo, para quien la causa sería una disrupción vascular que produce una hemorragia durante la formación embriológica de la arteria estapedial, lo que se asocia con alteraciones en el desarrollo del primer y el segundo arcos branquiales. El tamaño del hematoma y la lesión del tejido resultante explicarían la morfología y las diferentes variaciones de MHF en los modelos experimentales, ya que, a mayor tamaño, mayores alteraciones en el desarrollo de estos arcos branquiales. 5 Otra de las teorías es la postulada por Johnston, 6 para quien el factor causal sería una alteración en la migración de las células de la cresta neural hacia la formación del ganglio trigeminal. Esta falta en la migración, y por ende la ausencia de interacción entre las células de la cresta neural y el mesénquima celular, también se ha asociado a otros problemas observados en pacientes con MHF, como la microdoncia y la hipodoncia, 7 la fisura palatina y problemas cardiacos. 8 INTRODUCTIONHemifacial microsomia (HFM) corresponds to a spectrum of congenital craniofacial malformations characterized by hypoplasia of tissues embryologically originating from the first and second branchial arches. Its expression is highly variable, even with defects of heart, spine, and central nervous system.It is the second most common craniofacial malformation after cleft lip and palate, with an estimated incidence of 1/5,600 births. 1 It appears one-sided in 70% of cases, and its bilateral form is usually asymmetrical, affecting one side more than the other. 2 As a complex heterogeneous alteration, patients showing its wide manifestations have received...

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A family with autosomal dominant oculo-auriculo-vertebral spectrum

Cited by 82 publications

References 24 publications

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

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

Congenital corneal opacities – a surgical approach to nomenclature and classification

Microsomía hemifacial. Revisión de la literatura

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