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Stephen W. Scherer - One of the best experts on this subject based on the ideXlab platform.
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Microcephaly‐capillary Malformation Syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
American journal of medical genetics. Part A, 2016Co-Authors: Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G. Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. SchererAbstract:We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary Malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary Malformation Syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. © 2016 Wiley Periodicals, Inc.
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microcephaly capillary Malformation Syndrome brothers with a homozygous stambp mutation uncovered by exome sequencing
American Journal of Medical Genetics Part A, 2016Co-Authors: Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G. Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. SchererAbstract:We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary Malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary Malformation Syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. © 2016 Wiley Periodicals, Inc.
William B. Dobyns - One of the best experts on this subject based on the ideXlab platform.
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megalencephaly capillary Malformation mcap and megalencephaly polydactyly polymicrogyria hydrocephalus mpph Syndromes two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
American Journal of Medical Genetics Part A, 2012Co-Authors: Ghayda M. Mirzaa, Karen W Gripp, Robert L Conway, Tally Lermansagie, Dawn H Siegel, Linda S Devries, Nancy Kramer, Elizabeth Hopkins, John M Graham, William B. DobynsAbstract:The macrocephaly-capillary Malformation Syndrome (M-CM), which we here propose to rename the megalencephaly-capillary Malformation Syndrome (MCAP; alternatively the megalencephaly-capillary Malformation-polymicrogyria Syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these Syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary Malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain Malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia. © 2012 Wiley Periodicals, Inc.
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The microcephaly‐capillary Malformation Syndrome
American Journal of Medical Genetics Part A, 2011Co-Authors: Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind, William B. DobynsAbstract:We report on three children from two families with a new pattern recognition Malformation Syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary Malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC Syndrome.
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The microcephaly-capillary Malformation Syndrome.
American journal of medical genetics. Part A, 2011Co-Authors: Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind, William B. DobynsAbstract:We report on three children from two families with a new pattern recognition Malformation Syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary Malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC Syndrome.
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megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus a rare brain Malformation Syndrome associated with mental retardation and seizures
Neuropediatrics, 2004Co-Authors: G Mirzaa, N N Dodge, Ian A Glass, Christopher P Day, Karen W Gripp, L Nicholson, Volker Straub, Thomas Voit, William B. DobynsAbstract:Background and objective Megalencephaly (MEG) or enlarged brain occurs as a mild familial variant with normal brain structure, but otherwise is an uncommon human brain Malformation that may be associated with significant developmental and neurological problems. It has been classified into anatomic and metabolic subtypes. The clinical findings associated with anatomic megalencephaly have been variable and few distinct subtypes have been described. We report five unrelated children with severe congenital MEG associated with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). Methods The clinical records and brain MRI of five patients have been reviewed. Results All patients had striking MEG that was symmetric in three of the five patients, and mildly asymmetric in two. The birth OFC was between +2 and +4 SD. The gyral pattern was irregular with microgyri typical of PMG, which was most severe in the perisylvian region in all five patients. Four of the five had hydrocephalus treated with a shunt. Subsequently, one of the shunted patients had small ventricles while the others had mildly to moderately enlarged lateral ventricles. Three of the five patients had postaxial polydactyly of all four limbs. The corpus callosum was dysmorphic in one patient with a fused rostrum and genu, and intact although mildly thin in the others. None were abnormally thick. All patients had severe mental retardation; three had seizures and another had an epileptiform EEG. Conclusion We believe this constellation of findings (MEG-PMG-POLY-HYD) comprises a new and distinct Malformation Syndrome that we designate the MPPH Syndrome.
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bilateral frontal polymicrogyria a newly recognized brain Malformation Syndrome
Neurology, 2000Co-Authors: Renzo Guerrini, James A Barkovich, Laszlo Sztriha, William B. DobynsAbstract:Background and Objective: Polymicrogyria is a brain Malformation characterized by abnormal cortical lamination, excessive cortical folding, and fusion of the cortical molecular layer. Two distinct bilateral localized forms have been described: bilateral perisylvian polymicrogyria, which has proved to be genetically heterogeneous, and bilateral parasagittal parieto-occipital polymicrogyria, which has been described only in sporadic patients. We describe 13 patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus: bilateral frontal polymicrogyria (BFP). Methods: Review of clinical records, brain MRI, and EEG results of 13 patients; correlation with other regional polymicrogyrias. Results: The abnormal cortex extended from the frontal poles anteriorly to the precentral gyrus posteriorly and to the frontal operculum inferiorly and was relatively symmetric in all 13 patients. All patients presented with developmental delay and mild spastic quadriparesis, but variably impaired language development (12/13), mental retardation (11/13), and epilepsy (5/13) also occurred. BFP was sporadic in 13 of 13 patients, but 2 of 13 had consanguineous parents. Conclusions: BFP extends the spectrum of the recognized bilateral symmetric regional polymicrogyria Syndromes.
Menelaos Zafrakas - One of the best experts on this subject based on the ideXlab platform.
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Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing.
Current genomics, 2019Co-Authors: Panayiota Papasozomenou, Ioannis Papoulidis, Themistoklis Mikos, Menelaos ZafrakasAbstract:Background Split-hand/foot Malformation Syndrome is a rare, clinically and genetically het-erogeneous group of limb Malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or it may be associated with a genetic syn-drome. Case Report In the present case, isolated split-hand/split-foot Malformation was diagnosed by prenatal ultrasound at 24 weeks in a male singleton fetus, with deep median cleft of the right hand, syndactyly and hypoplasia of phalanges in both hands, and oligodactyly of the right foot. During consultation, the father of the fetus revealed that he also had an isolated right foot dysplasia. The parents chose elective termination and autopsy confirmed prenatal ultrasound findings. Genetic testing of the aborted fetus with QF-PCR analysis for common aneuploidies and array comparative genomic hybridization (aCGH) showed a male genomic pattern, without aneuploidies or chromosomal imbalances. Further investigation with next generation sequencing of 49 clinically relevant genes revealed a novel heterozygous FGFR1 mutation c.787_789del (p.Ala263del) in the fetus; the father was heterozygous to the same mutation. Conclusion A novel heterozygous FGFR1 mutation causing split-hand/foot Malformation Syndrome is reported. Accurate genetic diagnosis allowed detailed counseling to be provided to the couple, including the underlying cause, recurrence risks, and detailed management plan with preimplantation genetic diag-nosis for future pregnancies.
Muhammad Imran Naseer - One of the best experts on this subject based on the ideXlab platform.
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Microcephaly‐capillary Malformation Syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
American journal of medical genetics. Part A, 2016Co-Authors: Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G. Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. SchererAbstract:We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary Malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary Malformation Syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. © 2016 Wiley Periodicals, Inc.
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microcephaly capillary Malformation Syndrome brothers with a homozygous stambp mutation uncovered by exome sequencing
American Journal of Medical Genetics Part A, 2016Co-Authors: Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G. Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. SchererAbstract:We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary Malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary Malformation Syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. © 2016 Wiley Periodicals, Inc.
Martin Schumacher - One of the best experts on this subject based on the ideXlab platform.
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Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular Malformation Syndrome and additional congenital Malformations (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome).
European journal of medical research, 2010Co-Authors: Dieter Schmidt, H Agostini, Martin SchumacherAbstract:Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular Malformation Syndrome.
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The Congenital Unilateral Retinocephalic Vascular Malformation Syndrome (Bonnet-Dechaume-Blanc Syndrome or Wyburn-Mason Syndrome): Review of the Literature
Survey of ophthalmology, 2008Co-Authors: Dieter Schmidt, Mona Pache, Martin SchumacherAbstract:Retinal arteriovenous Malformations represent a rare Syndrome in which a direct connection of major vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. This review comprises the computer-stored data of all the 121 patients with arteriovenous Malformations described in the literature. Twenty-seven patients had typical Bonnet-Dechaume-Blanc Syndrome (in this article designated as congenital retinocephalofacial vascular Malformation Syndrome), 25 had incomplete congenital retinocephalofacial vascular Malformation Syndrome (without facial skin lesions), 57 had isolated retinal arteriovenous Malformations, and 12 had arteriovenous communications of the retina and distinct neurological signs, but without neuroradiological evidence of cerebral arteriovenous Malformations (presumed cerebral arteriovenous Malformations). Concerning the retinal findings, we found a distinct difference by comparing patients with congenital retinocephalofacial vascular Malformation Syndrome and those with isolated retinopathy without cerebral or facial Malformations: extensive retinal Malformations of vessels of most parts of the fundus occurred conspicuously more often in patients with retinal and cerebral arteriovenous Malformations. In contrast, local retinal arteriovenous Malformations occurred in all patients with isolated retinopathy without cerebral or facial Malformations and rarely in patients with congenital retinocephalofacial vascular Malformation Syndrome. In conclusion, patients with arteriovenous communications of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral arteriovenous Malformations. Current therapeutic strategies include endovascular, surgical, and radiation procedures.