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Hakon Hakonarson - One of the best experts on this subject based on the ideXlab platform.
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Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Elizabeth J. Bhoj, Margaret Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D. Hoffman, Hakon HakonarsonAbstract:Teebi Hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi Hypertelorism-like syndrome and Teebi Hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi Hypertelorism and Aarskog syndromes in 2007. This patient had Hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi Hypertelorism syndrome with Hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in SPECC1L. We review the phenotypic findings in the previously-published Teebi Hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.
Jodi D. Hoffman - One of the best experts on this subject based on the ideXlab platform.
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Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Elizabeth J. Bhoj, Margaret Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D. Hoffman, Hakon HakonarsonAbstract:Teebi Hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi Hypertelorism-like syndrome and Teebi Hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi Hypertelorism and Aarskog syndromes in 2007. This patient had Hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi Hypertelorism syndrome with Hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in SPECC1L. We review the phenotypic findings in the previously-published Teebi Hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.
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a newly recognized craniosynostosis syndrome with features of aarskog scott and teebi syndromes
American Journal of Medical Genetics Part A, 2007Co-Authors: Jodi D. Hoffman, Mira Irons, Charles E Schwartz, Livija Medne, Elaine H ZackaiAbstract:We present two unrelated boys with craniosynostosis and similar facial features including Hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog-Scott and in Teebi Hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded.
Anne Slavotinek - One of the best experts on this subject based on the ideXlab platform.
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A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
American Journal of Medical Genetics Part A, 2010Co-Authors: Jacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne SlavotinekAbstract:We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with Hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have Hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated.
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A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
American Journal of Medical Genetics Part A, 2010Co-Authors: Jacob Hogue, Hazel Perry, Reena Patel, Karin Vargervik, Suma P. Shankar, Anne SlavotinekAbstract:We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with Hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have Hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated. © 2010 Wiley-Liss, Inc.
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Atrioventricular block and wiry hair in Teebi Hypertelorism syndrome.
American journal of medical genetics. Part A, 2006Co-Authors: Xiao-dong Han, Vicki Cox, Anne SlavotinekAbstract:We report on a 4½-year-old girl with clinical features of Teebi Hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, Hypertelorism, long palpebral fissures, ptosis, a thin upper lip, a grooved chin, and a left preauricular cyst. She required a pacemaker for third degree atrioventricular (AV) block, a finding that has not been previously reported in 36 other patients with THS and for which we were unable to identify other causes. We have reviewed the previous reports of THS and note a characteristic facial appearance with Hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep philtrum, and a prominent forehead. Structural cardiac defects were present in five patients, implying that cardiac investigations are warranted in patients with a cardiac murmur and a clinical diagnosis of THS. © 2006 Wiley-Liss, Inc.
Elizabeth J. Bhoj - One of the best experts on this subject based on the ideXlab platform.
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Expanding the SPECC1L Mutation Phenotypic Spectrum to Include Teebi Hypertelorism Syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Elizabeth J. Bhoj, Margaret Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D. Hoffman, Hakon HakonarsonAbstract:Teebi Hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi Hypertelorism-like syndrome and Teebi Hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi Hypertelorism and Aarskog syndromes in 2007. This patient had Hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi Hypertelorism syndrome with Hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in SPECC1L. We review the phenotypic findings in the previously-published Teebi Hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.
Hyuck Park - One of the best experts on this subject based on the ideXlab platform.
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Experience of Single Stage Treatment of Caniosynostosis, Hypertelorism, Exophthalmos Patient.
Archives of Plastic Surgery, 2006Co-Authors: Chul Hoon Chung, Seok Chan Eun, Dong Kuk Seo, Hyuck ParkAbstract:The simultaneous correction of the Hypertelorism and exophthalmos combined with craniosynostosis is very rarely performed operative procedures in the world. The craniosynostosis is the congenital anomaly that designates premature fusion of one or more sutures in either cranial vault or cranial base. Hypertelorism is not a distinct clinical syndrome in itself, but is a physical finding secondary to facial and cranial maldevelopment and it is defined as a increase in the distance between the medial orbital walls. Exophthalmos can occur following the decrease in the size of the orbit in patients with developmental skeletal disorders such as craniofacial synostosis.The authors experienced 9-year-old male patient, who has complex cranio-facial abnormality. The craniosynostosis was oxycephaly type and primary fronto- orbital advancement surgery had been performed in other hospital. The abnormal cranial vault combined with Hypertelorism and exophthalmos due to maldeveloped both orbital walls. Surgical correction was obtained by various cranio-fronto-orbital remodeling technique such as calvarial bone craniotomy, fronto-orbital advancement, paramedian resection, medial canthopexy, Tessier- Wolfe three wall orbital expansions. We achieved a quite satisfactory result both functionally and aesthetically in a complex cranio-facial deformity patient by combination and modification of previously developed various cranio- facial plasty technique and hereby report the case with brief discussion and review of literature.