Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Axenfeld-Rieger syndrome � report of a rare case and review

A typical case of Axenfeld-Rieger syndrome (ARS), a rare autosomal dominant condition manifesting with ocular, craniofacial, and dental abnormalities, is presented. The patient showed dental features such as oligodontia, microdontia, abnormally shaped teeth, hyperplastic maxillary labial frenum, and maxillary retrognathism. Early diagnosis of the syndrome from its dentofacial manifestations and a multidisciplinary approach is required for the management of patients with ARS.

Presence and development of strabismus in children with telecanthus, epicanthus and hypertelorism

Purpose: To study the presence and development of strabismus in children with telecanthus, epicanthus, and hypertelorism. Methods: This is a prospective, longitudinal, and observational study. Sixty children aged between 6 months and 18 years with telecanthus, epicanthus, and hypertelorism in isolation or in combination were recruited. A detailed analysis of the history, determination of best corrected visual acuity, complete evaluation of strabismus, and ocular examination were carried out. The presence of telecanthus, epicanthus, and hypertelorism and associated strabismus, if any, was noted. All children were followed up for a minimum and maximum period of 12 and 18 months, respectively, to analyze the strabismus (previously present) and for detection of strabismus in those who did not have. The data were analyzed descriptively with mean and standard deviation. Chi square test and Fishers exact test were used to analyze the data between the groups. A P value less than 0.05 was considered to be statistically significant. Results: Telecanthus was the most common lid feature (55%). At baseline, ten (16.66%) children had strabismus (six: esotropia; four: exotropia). Two (3.33%) children underwent surgery. One child developed exotropia at the third follow?up (18 months). At the end of the study, 11 (18.33%) children had strabismus. No significant association was seen between lid characteristics and the type of strabismus. Conclusion: Children with telecanthus, epicanthus, and hypertelorism in isolation or in combination may or may not have associated strabismus. These features can pose difficulty in strabismus diagnosis, which mandates a careful examination, especially in younger age groups and small?angle strabismus. On the other hand, children without strabismus need longer follow?up to detect the development of strabismus and to initiate further management at the earliest.

Detection of ocular hypertelorism among Indian children

Background & objectives: Ocular hypertelorism constitutes an important component of many clinical syndromes. It is typically recommended to use inter-pupillary distance (IPD) for objective evaluation of ocular hypo/hypertelorism. Barring infancy, there is a scarcity of data on this anthropometric parameter relating to the ocular apparatus. This study aims to study auxological dynamics of IPD in children of Indian origin. Methods: A total of 3622 ( 2239 males and, 1383 females) normal, healthy Indian children of North-western origin, aged one month to 14 yr comprised the sample for this study. Inner and outer-canthal distance were measured using standardized anthropometric techniques. None of the children who participated in this study had craniofacial dysmorphism or any body deformity. Mean (standard deviation SD) and percentiles were calculated for IPD in male and female subjects at different age levels. Results: IPD increased from 4.68±0.21 to 6.19±0.36 cm in males and from 4.59±0.26 to 6.08±0.25 cm in females between one month and 14 yr of age. Boys in general, possessed larger IPD than girls, however, the gender differences became significant (P?0.05) at 10, 11, 16-18 and 22-24 months, respectively, and five and 10 yr of age, respectively. Interpretation & conclusions: The results of this study suggest that the patients having IPD less than the 3rd percentile should be treated as cases of hypotelorism while, those exceeding 97th percentile as cases of hypertelorism. The use of percentile grids presented for IPD may be used to detect ocular hypotelorism and hypertelorism in male and female children to corroborate diagnosis of different syndromes

Disminución de agudeza visual, hipertelorismo y exoftalmos debido a piomucocele bilateral / Decrease in visual acute, hypertellorism, and exophthalms due to bilateral piomucocele

RESUMEN Introducción: El Piomucocele es la infección de un mucocele pre existente. Presentamos un varón de 22 años con disminución de agudeza visual, hipertelorismo y exolftamos. Presentó proptosis inferolateral y agudeza visual 20/80 en el lado izquierdo. Sin antecedente de traumatismo, infecciones, pólipos o cirugías. TAC con imágenes sugestivas de mucocele bilateral con efecto compresivo orbital anterior en el lado derecho y posterior en el lado izquierdo. El efecto compresivo del piomucocele etmoidal y esfenoidal en el lado izquierdo produjo compromiso del canal óptico con disminución de la agudeza visual ipsilateral. Se realizó cirugía endoscópica nasosinusal con marsupialización y descompresión, encontrándose dos piomucoceles en dirección antero posterior bien delimitados en lado derecho y un piomucocele izquierdo. La evolución fue favorable. Ésta inusual presentación obliga a considerar el compromiso ocular insospechado, principalmente en piomucoceles que comprometan senos paranasales posteriores.

ABSTRACT Background: The Piomucocele is the infection of a pre-existing mucocele. We present a 22-year-old man with decreased visual acuity, hypertelorism, and exophthalmos. He presented inferolateral proptosis and visual acuity 20/80 on the left side. No history of trauma, infection, polyps, or surgery. CT scan with images suggestive of bilateral mucocele with anterior orbital compression effect on the right side and posterior on the left side. The compressive effect of the ethmoidal and sphenoid pyomukocele on the left side produced compromise of the optic canal with decreased ipsilateral visual acuity. Endoscopic sinonasal surgery was performed with marsupialization and decompression, finding two well-defined anteroposterior pyomukoceles on the right side and one left pyomukocele. The evolution was favorable. This unusual presentation forces us to consider unsuspected ocular involvement, mainly in pyomukoceles that involve posterior paranasal sinuses.

Advance in diagnosis and treatment of craniofrontonasal syndrome / 中华整形外科杂志

Craniofrontonasal syndrome/dysplasia(CFNS/CFSD) is a rare X-linked malformation syndrome caused by EFNB1 gene mutations. It is characterized by unilateral or bilateral coronal craniosynostosis, hypertelorism, frontal bossing, broad or bifid nose, grooved nails, agennetic corpus callosum. Female are more commonly and more severely affected than males. Given the classic manifestation, specific hereditary, and complicated treatment, the diagnosis and treatment of CFNS is always a challenge. However, there is only a few studies related to CFNS, and consensus regarding its treatment has not been reached. Thereby, we summarized pertinent literatures and made a thorough review on the diagnosis and treatment of CFNS.

Do you know this syndrome? Leopard syndrome

ABSTRACT Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome.

Surgical correction of grade III hypertelorism

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital. Surgical techniques used to correct the deformity were box osteotomy and medial wall osteotomy with or without calvarial and rib grafts. A few of our cases were reoperations with specific challenges.

Orbital widening syndrome: etiology and therapeutic approaches / 中华医学美学美容杂志

Objective To evaluate the etiology,therapeutic approaches and prognosis of orbital hypertelorism.Methods Clinical data of 23 cases were summarized with review ot the literature.Results All operations provided satisfactory cosmetic effects.All the patients were followed up for 6 months to 5 years,and no recurrence were observed.Conclusions A good cosmetic effect can be obtained by operation in orbital hypertelorism.The preschool period the best opportunity,and stable effects could be gotten and the psychological development of children has not been influenced.The intracranial and extracranial joint pathway orbit box osteotomy still has drawbacks and requires to be improved.The etiology of gene and molecular aspects need to be explored.

Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.

Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric manifestations. Following case report highlights the case of a young infant presenting with associated features including bilateral cleft lip and palate and hypertelorism. The kid was refused treatment at several centers owing to the central nervous system abnormality. This case reports highlight the ACC as a comorbid diagnosis in cleft lip and palate patient with hypertelorism perhaps owing to ignorance and fear of this apparently innocuous congenital malformation.

Peters anomaly with post axial polydactyly, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia, and club foot in an Indian neonate: A case report

A case of Peters anomaly with bilateral post axial polydactyly, convex soles, ocular hypertelorism, a low nasal bridge, retrognathia, undescended testis, microphthalmia and club foot was examined in a neonatal Indian baby girl who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There were no cases of Peters anomaly recorded in India according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations. A Indian baby girl of who was born through a Cesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot. This is a rare case of Peters anomaly and its association with Patau syndrome makes it special

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus / Síndrome de Gorlin-Goltz: diagnóstico de um caso associado à cardiopatia e diabetes mellitus 2

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.

A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.

Unusual Position and Presentation of Frontobasal Meningoencephalocela

We wish to show our experiance with threating a rare congenital brain malformation-encephalocele. It is a protusion of brain matter with greater incidence in the Far East. Our case is even more curious because of the site of occurrence-frontobasal. Most of encephalocele occur in the occipital region. In this article we report a case of a 57-year-old woman, without deformations on the face, which had epileptic seizures and in spite of receiving antiepileptic drug. She was also frequently treated for sinusitis. She never had rhinoliquorrhea, nor was she diagnosed to have meningitis. In the last few years she had difficulty breathing on her right nostril. After she was diagnosed with encephalocele and treated surgically her recovery was complete and she is without the seizures.

Crossed Polydactyly and Greig Cephalopolysyndactyly Syndrome.

Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and hypertelorism. Crossed polydactyly is a finding characteristically associated with this syndrome. We report a one and half year old male child who presented with classic clinical features and family history diagnostic of the above syndrome.

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB / Auditory findings and electrophysiologics in individuals with G/BBB syndrome

A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome. OBJETIVO: Investigar a função auditiva em pacientes com síndrome G/BBB quanto à ocorrência ou não de perda auditiva e a condução nervosa auditiva periférica e central. MATERIAL E MÉTODO: Catorze pacientes de 7 a 34 anos, do gênero masculino, com a síndrome G/BBB, foram avaliados por meio de otoscopia, audiometria, timpanometria e potenciais evocados auditivos de tronco encefálico (PEATE). Forma de Estudo: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 12 (66,7 por cento) pacientes da amostra e alterados em dois (33,3 por cento), sendo um com perda condutiva e um neurossensorial. Quanto ao PEATE, foram encontrados: latências absolutas da onda I normais em todos os pacientes, aumento das latências absolutas da onda III e V em dois e seis pacientes respectivamente; latências interpicos I-III, III-V e I-V aumentadas em quatro, três e oito pacientes, respectivamente. CONCLUSÃO: Perdas auditivas periféricas podem ocorrer na síndrome G/BBB. Há evidências de comprometimento das vias auditivas centrais em nível do tronco encefálico. Estudos com exames de imagem são necessários para maior clareza dos achados clínicos.

The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. AIM: To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory nerve conduction. METHODS: Fourteen male patients aged 7-34 years with the G/BBB syndrome were assessed by otoscopy, audiometry, tympanometry and evoked auditory brainstem response (ABR). Model: A retrospective clinical series study. RESULTS: Audiometric thresholds were normal in 12 (66.7 percent) of the sample and altered in two (33.3 percent), one with conductive and one with sensorineural loss. ABR resuts were: all patients had normal absolute wave I latencies; absolute wave III and V latencies were increased in two and six patients, respectively; interpeak latencies I-III, IV and V interpeak latencies were increased in four, three and eight patients respectively. CONCLUSION: Hearing loss can occur in the G/BBB syndrome. There is evidence of central auditory pathway involvement in the brainstem. Imaging studies are needed to clarify the clinical findings.

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles / Displasia frontonasal: avaliação clínica e eletrofisiológica da audição

Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found. AIM: To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND. METHODS: 21 patients with isolated or syndromic FND were submitted to a clinical (otological/vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation. DESIGN: A clinical, cross-sectional observational prospective study. RESULTS: Hearing thresholds were normal in 15 (70 percent) patients, abnormal in 5 (25 percent), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72 percent) ears, type C in 5 (12 percent), type As in 4 (9 percent) and type B in 3 (7 percent). The auditory brainstem response (ABR) showed no abnormalities. CONCLUSION: Patients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.

A displasia frontonasal (DFN) representa um complexo malformativo que afeta os olhos, o nariz e a região frontal da face. Estudos específicos com o objetivo de estudar a audição na DFN não foram encontrados na literatura. OBJETIVO: Avaliar o sistema auditivo em indivíduos com DFN quanto à acuidade e condução do estímulo sonoro até o tronco encefálico. MATERIAL E MÉTODO: 21 pacientes na faixa etária de 7 a 42 anos, sendo 14 do sexo feminino e 7 do sexo masculino, com DFN isolada ou sindrômica, foram submetidos à anamnese, meatoscopia, imitanciometria, audiometria tonal liminar e potenciais evocados auditivos de tronco encefálico (PEATE). FORMA DE ESTUDO: Estudo de série clínico prospectivo. RESULTADOS: Limiares audiométricos normais em 15 (70 por cento) indivíduos e alterados em 5 (25 por cento), sendo perda auditiva condutiva na maior parte. Na timpanometria, 30 orelhas (72 por cento) apresentaram curva tipo A, 5 (12 por cento) tipo C, 4 (9 por cento) tipo Ar e 3 (7 por cento) tipo B. Os valores das latências absolutas e interpicos do PEATE foram normais. CONCLUSÕES: Não foram encontradas alterações na via auditiva até o tronco encefálico. As alterações condutivas são provavelmente relacionadas às patologias de orelha média decorrentes da fissura de palato. Sugerimos a avaliação de níveis mais altos dentro do sistema auditivo.

Dandy–Walker malformation: An incidental finding.

Dandy–Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging.

Ocular Findings in Cri Du Chat Syndrome: A Case Report

PURPOSE: To report the ophthalmologic examination of an infant who has cri du chat syndome with exotropia and facial abnormalities. CASE SUMMARY: A 7 - month - old infant was confirmed as having cri du chat syndrome by a chromosomal study. He showed mild developmental retardation and eyeball deviation. This male infant underwent ophthalmic evaluations, including an extraocular examination, measurement of deviation, ocular movement test, interepicanthal distance, and fundus examination. As a result, facial abnormalities were found, including telecanthus and epicanthal folds. The infant had intermittent exotropia of 40 prism diopters according to the Hirschberg test and optic atrophy according to the fundus examination. CONCLUSIONS: Cri du chat syndrome manifests with many different ocular symptoms, including hypertelorism, telecanthus, epicanthal folds, and exotropia.

A Case of Simultaneous Correction of Frontoethmoidal Meningoencephalocele and Hypertelorism

PURPOSE: A meningoencephalocele is a congenital malformation involving herniation of the meninges and cerebral tissue through a defect in the skull. For the patient with frontoethmoidal meningoencephalocele with hypertelorism, the removal of the meningoencephalocele without correction of the combined hypertelorism is not enough for getting a good cosmetic appearance. Correction of the hypertelorism is needed for cosmetic problem. We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. METHODS: The meningoencephalocele was removed and the hypertelorism was corrected by central segment technique. The bone defects were filled with autogenous bone dusts. And the nose was reconstructed by a calvarial bone graft. RESULTS: The patient had a good cosmetic appearance without any neurological complications without serious complications. CONCLUSION: We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. And a brief review of related literatures is given.

Síndrome de Wolf-Hirschhorn (deleção do braço curto do cromossomo 4p): Relato de caso / Wolf-hirschhorn syndrome (terminal deletion of the short arm of chromosome 4p): case report

Objective: to report a case of Wolf-Hirschhorn Syndrome or partial deletion of the short arm of one chromosome 4 and present a brief literature review. Case Report: the authors report a case of a seven years-old child presenting the main findings of the syndrome: hypertelorism, big and large nose, prominent glabella, high arched eyebrows, antimongoloid palpebral fissures, bilateral low implantation of auricles, and microcephaly. Echodopplercardiographic study evidenced interatrial communication type ostium secundum without hemodynamic repercussion. Radiological examination showed clubfeet. The patient presents many cognitive deficits, mainly in functions as interaction and learning. Evident motor dysfunctions compromising gait and also muscle atrophy. The child also presented convulsive crises in the first year of life that are currently controlled by the use of anticonvulsants. Final considerations: the incidence of the Wolf-Hirschhorn Syndrome is rare, with only 100 cases reported until1981. The prognosis is relative, with one third of the patients dying with in the first year, while other children are alive with more than twelve years of age. This case was diagnosed based on clinical, radiological, echodopplercardiographical criteria and confirmed by the karyotype's result 46,XX,del(4)(p15?1).

Objetivo: descrever um caso de síndrome de Wolf-Hirschhorn ou deleção parcial terminal do braço curto de um dos cromossomos 4 e apresentar uma breve revisão da literatura. Relato de Caso: criança de sete anos que apresenta os principais aspectos da síndrome: hipertelorismo, nariz grande e adunco, glabela proeminente, fissuras palpebrais antimongolóides, implantação baixa dos pavilhões auriculares, micrognatia e microcefalia. Radiografias do esqueleto revelaram má formação óssea, causando pés eqüinovaros. A ecodopplercardiografia evidenciou CIA sem repercussão hemodinâmica. A paciente apresenta inúmeros déficits cognitivos, fundamentalmente nas funções de interação e aprendizado, além dos distúrbios motores evidentes, com comprometimento da marcha e atrofia muscular; crises convulsivas no primeiro ano de vida, mas que estão atualmente controladas pelo uso de anticonvulsivante. Considerações Finais: a incidência da Síndrome de Wolh-Hirschhorn é rara, com 100 casos publicados até 1981. O prognóstico é relativo, com 1/3 dos pacientes morrendo no decorrer do primeiro ano, enquanto outras crianças estão vivas com mais de 12 anos. O caso apresentado foi diagnosticado com base em critérios clínicos, radiológicos, ecodopplercardiogáficos e confirmado pelo resultado do cariótipo: 46,XX,del(4)(p15?1).