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Silvia Bragagnolo Mileny E. S. Colovati Malu Z. Souza Anelise G. Dantas Maria F. F de Soares Maria I. Melaragno Ana B. Perez 《American journal of medical genetics. Part A》2018,176(3):638-648
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Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia
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Noah Cohen Erica Cohen Alberto Gaiero Silvia Zecca Graziella Fichera Federica Baldi Joseph Felix Giordanetto Jacques Marie Mercier Amnon Cohen 《American journal of medical genetics. Part A》2017,173(5):1208-1218
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John P. Johnson Lucille S. Poskanzer Sanford Sherman 《American journal of medical genetics. Part A》1996,61(2):134-139
The Townes-Brocks syndrome (TBS) is comprised of a triad including characteristic anal, thumb, and ear anomalies. There are many other organ system abnormalities which may be present. However, the literature does not emphasize craniofacial findings except with reference to the typical ear configuration. A three-generation family is described in which craniofacial manifestations were prominent and a Goldenhar-like condition was considered as the most likely diagnosis. However, with the recent birth of an affected male who had an imperforate anus, the diagnosis of TBS was also considered. The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS. We report on this family to point out a possible biological relationship of these two conditions. © 1996 Wiley-Liss, Inc. 相似文献
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Oculoauriculovertebral anomaly: segregation analysis. 总被引:2,自引:0,他引:2
C I Kaye A O Martin B R Rollnick K Nagatoshi J Israel M Hermanoff B Tropea J T Richtsmeier N E Morton 《American journal of medical genetics》1992,43(6):913-917
Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable. 相似文献
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Lucian Regenbogen Victor Godel Viorica Goya Richard M. Goodman 《Clinical genetics》1982,21(3):161-167
A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies. 相似文献
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J. M. Cobben A. J. van Essen P. G. McParland H. A. Polman L. P. ten Kate 《Clinical genetics》1992,41(2):105-107
Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed. 相似文献
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Yolande van Bever Jenny J. van den Ende A. Richieri-Costa 《American journal of medical genetics. Part A》1992,44(5):683-690
We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of hydrocephalus, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and dextrocardia. Our patients show that in some instances a definite diagnosis can be difficult within the wide clinical picture of the OAV complex. © 1992 Wiley-Liss, Inc. 相似文献
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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification 总被引:4,自引:0,他引:4
Tasse C Böhringer S Fischer S Lüdecke HJ Albrecht B Horn D Janecke A Kling R König R Lorenz B Majewski F Maeyens E Meinecke P Mitulla B Mohr C Preischl M Umstadt H Kohlhase J Gillessen-Kaesbach G Wieczorek D 《European journal of medical genetics》2005,48(4):397-411
Oculo-auriculo-vertebral spectrum (OMIM164210) is a phenotypically and probably also a genetically heterogeneous disorder, characterized by anomalies of the ear (mostly microtia), hemifacial microsomia, and defects of the vertebral column. Associated clinical findings include anomalies of the eye and brain, and developmental delay. We have evaluated the clinical data and photographs of 53 unrelated patients with OAVS, all presenting with either isolated microtia or preauricular tags in association with hemifacial microsomia as minimal diagnostic criteria; five had a positive family history for OAVS. Based on the main clinical findings and unilateral or bilateral involvement, we have developed a new classification system for OAVS, consisting of six subgroups. There is a statistically significant correlation between the subgroup and number of associated clinical findings, and a statistically significant difference regarding prognosis in uni- and bilaterally affected patients, suggesting that this classification is clinically relevant to the categorization of patients with OAVS. The newly developed scoring system (two points for each main clinical finding and one for each associated clinical finding) presented here, also aids prognosis, especially for delay of motor development and brain anomalies, and statistical analysis revealed significant clustering between different clinical findings of OAVS confirming the clinical impression previously published by several authors. 相似文献
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John Moeschler Sterling K. Clarren John M. Opitz 《American journal of medical genetics. Part A》1982,12(4):371-375
Usually hemifacial microsomia is an isolated malformation complex; however, it may be associated with other malformations as in Goldenhar syndrome. This report describes three patients with hemifacial microsomia and radial limb deficiency. This may represent a specific autosomal-dominant condition. 相似文献
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Bonnie L. Padwa Richard J. Bruneteau John B. Mulliken 《American journal of medical genetics. Part A》1993,47(8):1202-1207
Fifteen of 155 patients with hemifcial microsomia were noted to have frontal plagiocephaly. These patients were examined to determine whether the frontal flattening was either secondary to deformation, the result of unilateral coronal synostosis, or part of the spectrum of hemifacial microsomia. The patients were categorized as having deformational versus synostotic frontal plagiocephaly by documenting position of the supraorbital rims, nasal root, ears, malar eminences, chin point, and the palperbral fissure height. Other extracraniofacial anomalies were also noted. Fourteen of 15(93%) patients had characteristic deformational abnormalities. Only 1/15(7%) had an elevated orbit, suggestive of unilateral coronal synostosis, but theis diagnosis was not radiographically confirmed. Frontal deformational plagiocephaly was ipsilateral to the side predominantly affreted by hemifacial microsomia in all but on e patient. Patients with hemifacial microsomia-deformational frontal plagiocephaly often had ipsilateral torticollis, cervical spine abnormalities, and anomalies outside the craniofacial region. This was in contrast to patients with deformational frontal plagiocephaly, in the absence of hemifacial microsomia, who frequently had ipsilateral torticollis but no other anomalies. This study also undrscores possible confusion in defferentiating hemifacial microsomia from deformaional hemifacial hypoplasia on physical exaination. The association of deformational frontal plagiocephaly and hemifacial microsomia belies a rigid etiologic label of deformational versus malformative anomaly. © 1993 Wiley-Liss, Inc. 相似文献
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Eric A. Wulfsberg Tamara M. Grigbsy 《American journal of medical genetics. Part A》1990,37(1):100-102
We report on a 4-year-old first-born mono-zygotic twin girl with a hypoplastic left face, mandible and zygoma, left microtia without an external auditory canal, a U-shaped cleft palate, right ectopic-fused kidneys, a blindly ending vaginal pouch, and absent uterus. We review 3 other cases with the manifestations of the Rokitansky and the facio-auriculo-vertebral sequence. The anomalies in these disorders can be thought of as deriving from an early defect or disruption in fetal mesoderm or its progenitor tissue at the time of primitive streak formation. They are frequently associated with other mesodermally derived defects or sequences and may together represent an extended polytopic field defect. While such speculation on how these spatially separated anomalies develop is probably simplistic, the concept of a mesodermal “malformation” spectrum is helpful in reminding the clinician to look for other mesodermal defects when one mesodermally derived defect or sequence is detected. 相似文献
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《European journal of medical genetics》2014,57(8):394-401
Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia. 相似文献
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M. S. Cohen C. A. Samango-Sprouse H. J. Stern D. A. Custer D. R. Vaught H. M. Saal C. J. Tifft K. N. Rosenbaum 《American journal of medical genetics. Part A》1995,60(6):535-540
We studied the neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum (OAV) and determined if certain physical manifestations were indicative of a poor neurodevelopmental prognosis. Twenty-four patients with OAV, aged birth to 57 months, were seen in the Department of Medical Genetics at Children's National Medical Center for multidisciplinary evaluations, including neurodevelopmental assessments. Fifty-eight percent of these children scored more than 2 standard deviations below the mean in at least one domain of development. There was no difference in developmental outcome of boys versus girls, children affected unilaterally on the right side versus left side, and those with severe clinical manifestations versus those with a milder form. Children with OAV and abnormal muscle tone had lower cognitive, gross motor, and expressive language scores (P = 0.05, P = 0.002, and P = 0.02, respectively). Those affected bilaterally had lower cognitive, fine motor, receptive language, and expressive language scores (P = 0.06, P = 0.03, P = 0.03, P = 0.02, respectively). Children with cervical spine abnormalities had lower cognitive, fine motor, and expressive language scores (P = 0.02, P = 0.04, and P = 0.04, respectively). We conclude that infants and toddlers with OAV are at increased risk for neurodevelopmental delay, especially those with abnormal muscle tone, bilateral involvement, and cervical vertebral anomalies. The complexity of the neurodevelopmental problems is strongly suggestive of central nervous system disturbances. Patients with OAV need comprehensive evaluation by a multi-disciplinary team to define potential neurodevelopmental delays, allow for early intervention services, and promote an optimal developmental outcome. © 1995 Wiley-Liss, Inc. 相似文献
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Eba H. Hathout Edward Elmendorf James Bartley 《American journal of medical genetics. Part A》1998,76(1):71-73
We report on partial dup(22q), growth deficiency, and the facioauriculovertebral sequence including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss in one patient. No endocrine or systemic cause for growth deficiency was identified. The case illustrates applicability of chromosome analysis in syndrome-associated growth failure, and a previously unreported associated chromosome abnormality. Am. J. Med. Genet. 76:71–73, 1998. © 1998 Wiley-Liss, Inc. 相似文献
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Pulmonary agenesis is a rare malformation that can be isolated or associated with other anomalies. We became interested in pulmonary agenesis after evaluation of a child with right pulmonary agenesis, an unlobed left lung, bilateral cleft lip and palate, maxillary and mandibular hypoplasia, bilateral microtia, bilateral radial ray hypoplasia, horseshoe kidney, and complex congenital heart disease. A review of the occurrence of pulmonary agenesis with other congenital anomalies uncovered a striking association with ipsilateral radial ray defects and/or hemifacial microsomia. The presence of bilateral facial or radial ray anomalies was indicative of bilateral pulmonary involvement. A review of the cases of pulmonary agenesis and associated anomalies at the Children's Hospital and Medical Center confirmed the association of pulmonary agenesis and ipsilateral involvement of face and/or radial ray. The association of pulmonary agenesis and ipsilateral malformations may shed light on its pathogenesis. Although the cause of these associated anomalies remains unclear, abnormalities in the development of the aortic arches during embryogenesis is an attractive hypothesis. Am. J. Med. Genet. 70:391–398, 1997. © 1997 Wiley-Liss, Inc. 相似文献