Research Topics
Species | Raoul C M HennekamSummaryAffiliation: University College London Country: UK Publications
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Publications
Rubinstein-Taybi syndromeRaoul C M Hennekam
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK
Eur J Hum Genet 14:981-5. 2006..A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. Suggestions for further research are given...
Elements of morphology: standard terminology for the nose and philtrumRaoul C M Hennekam
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK
Am J Med Genet A 149:61-76. 2009..Here we introduce the anatomy of the nose and philtrum, and define and illustrate the terms that describe the major characteristics of these body regions...- What to call a syndromeRaoul C M Hennekam
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, UK
Am J Med Genet A 143:1021-4. 2007 - Robert J. Gorlin (1923-2006): teacher, colleague, and friendRaoul C M Hennekam
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital for Children, UCL, London, United Kingdom
Am J Med Genet A 140:2514-5. 2006 - Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
Am J Med Genet A 152:2714-26. 2010..The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions... - Interpreting humanity's genesAdam C Shaw
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London, UK
Eur J Med Genet 52:379-80. 2009..Consequently, observational studies which systematically record human phenotype data are urgently needed to interpret molecular genetic variation... - 3D analysis of facial morphologyPeter Hammond
Eastman Dental Institute, UCL, London, United Kingdom
Am J Med Genet A 126:339-48. 2004..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html... - Nicolaides-Baraitser syndrome: Delineation of the phenotypeSérgio B Sousa
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
Am J Med Genet A 149:1628-40. 2009..Microarray analysis performed in 14 of the patients gave normal results. Except for the progressive nature there are no clues to the cause... - Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteriaMieke M van Haelst
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Med Genet A 143:3194-203. 2007..The specificity of the proposed diagnostic criteria was evaluated using the London Medical Database as a search tool... - Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndromeKhalid Hussain
Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
Pediatr Diabetes 10:193-7. 2009..The presence of consanguinity in the parents and similarity of clinical features in the siblings are suggestive of a novel autoimmune disorder, possibly secondary to autosomal recessive inheritance... - LEOPARD syndrome with partly normal skin and sex chromosome mosaicismKarin Writzl
Department of Clinical Genetics, Great Ormond Street Hospital for Children, UCL, London, UK
Am J Med Genet A 143:2612-5. 2007..Each of the above-hypothesized mechanisms may then remain possible... - Two siblings with an unusual nasal malformation: further instances of craniorhiny?Melissa M Lees
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
Am J Med Genet A 143:3290-4. 2007..One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed... - Immunological abnormalities in CHARGE syndromeKarin Writzl
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
Eur J Med Genet 50:338-45. 2007..We propose to evaluate immune functions in all CHARGE syndrome patients, to estimate the frequency and nature of the accompanying immunodeficiency, and to obtain better data regarding prognosis and management... - Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophySérgio B Sousa
Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
Am J Med Genet A 146:3186-94. 2008..Possible etiologies are discussed. The boy showed low alpha-neuraminidase activity levels in fibroblasts, but normal levels in leucocytes. The meaning of this finding remains as yet unknown... - Hutchinson-Gilford progeria syndrome: review of the phenotypeRaoul C M Hennekam
Clinical and Molecular Genetics Unit, Institute of Child Health, Great Ormond Street Hospital, London, UK
Am J Med Genet A 140:2603-24. 2006..Potential therapeutic strategies are developed along these lines and include RNA interference techniques and inhibition of the dominant-negative influence of abnormally formed Lamin A on polymerization with normally formed Lamin A... - Cranio-osteoarthropathy in sibsTabib Dabir
Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
Clin Dysmorphol 16:197-201. 2007..The present cases demonstrate the phenotypic variability of the condition. The consanguinity in the present family and analysis of previously described cases support autosomal recessive inheritance for cranio-osteoarthropathy... - The Peters' plus syndrome: a reviewLiesbeth J J M Maillette de Buy Wenniger-Prick
Department of Ophthalmology, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands
Ann Genet 45:97-103. 2002..The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided... - Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalitiesMargaret P Adam
Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA
Am J Med Genet A 137:117-24. 2005..In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed... 
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndromeTetsuya Niihori
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Nat Genet 38:294-6. 2006.... - Long-term follow-up in Stuve-Wiedemann syndrome: a clinical reportIsabel Mendes Gaspar
Department of Medical Genetics, Egas Moniz Hospital, Lisboa, Portugal
Am J Med Genet A 146:1748-53. 2008..The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature... - Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier
Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 80:994-1001. 2007.... - Normal values for morphological abnormalities in school childrenJohannes H M Merks
Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 140:2091-109. 2006..Furthermore, they will allow a proper evaluation of patterns of phenotypic abnormalities found in patient groups with specific disorders... - Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndromeGretel G Oudesluijs
Department of Clinical Genetics, University Medical Center Groningen, The Netherlands
Am J Med Genet A 137:77-80. 2005..The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes... - Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?Ali Al Kaissi
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
Am J Med Genet A 143:349-54. 2007..Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive... - Further delineation of Frank-ter Haar syndromeSaskia M Maas
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 131:127-33. 2004..Here we describe four patients, including three sibs of Turkish descent, with this entity... - Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndromeYoko Narumi
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Am J Med Genet A 143:799-807. 2007.... - Prevalence and patterns of morphological abnormalities in patients with childhood cancerJohannes H M Merks
Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
JAMA 299:61-9. 2008..Constitutional gene defects predispose to cancer in children. Such tumor predisposition syndromes can be recognized by specific patterns of morphological abnormalities... - Costello syndrome: an overviewRaoul C M Hennekam
Department of Pediatrics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
Am J Med Genet C Semin Med Genet 117:42-8. 2003..A review of the findings in the 73 patients that have been described in sufficient detail is provided... - Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndromeInge B Mathijssen
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet A 136:76-80. 2005..Genotype-phenotype correlations in patients with similar partial 13q duplications are inconsistent. Emerging cytogenetic techniques will allow more reliable genotype-phenotype correlations... - Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothersLieke Rozendaal
Department of Pediatrics and Clinical Genetics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
Clin Dysmorphol 12:9-13. 2003..No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance... - Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a reviewInge D C Van Balkom
Child- and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies
Am J Med Genet 112:412-21. 2002.... - Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston
National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:609-22. 2005..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis... - Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12Ellen O Blinkenberg
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Eur J Hum Genet 15:543-7. 2007..Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere... - Growth hormone analysis and treatment in Ellis-van Creveld syndromeFlorens G A Versteegh
Department of Pediatrics, Groene Hart Hospital, Gouda, The Netherlands
Am J Med Genet A 143:2113-21. 2007..In addition a prospective study to evaluate GH status and linear growth in patients with EvC as well as the potential effectiveness of GH treatment is warranted... - The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA
Hum Mol Genet 17:2172-80. 2008..In summary, we provide the first evidence that loss of acetyltransferase activity contributes to the pathogenesis of RBS, underscoring the essential role of the enzymatic activity of the Eco1p family of proteins... - Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeatsDaniel Hess
Friedrich Miescher Institute for Biomedical Research, Basel CH 4058, Switzerland
J Biol Chem 283:7354-60. 2008..In contrast, properdin from heterozygous relatives and a healthy volunteer carried the Glc-beta1,3-Fuc-Omicron-disaccharide. These data firmly establish Peters Plus syndrome as a new congenital disorder of glycosylation... - Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndromeEric Kalkhoven
Department of Molecular Cell Biology, MGC Centre for Biomedical Genetics, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Hum Mol Genet 12:441-50. 2003..These findings therefore underscore the functional importance of the PHD finger in vivo and imply that reduction of CBP HAT activity, as exemplified here by disruption of the PHD finger, is sufficient to cause RTS... - Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 80:550-60. 2007..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group... - Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndromeZahurul A Bhuiyan
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Eur J Hum Genet 15:505-8. 2007..In a single patient, we found a 5.2 kb deletion encompassing exons 41-42 of NIPBL. Our studies indicate that large NIPBL rearrangements do occur in CdLS but are likely to be infrequent events... - High incidence of malformation syndromes in a series of 1,073 children with cancerJohannes Hans M Merks
Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 134:132-43. 2005..We propose that all children with a malignancy should be examined by a clinical geneticist or a pediatrician skilled in clinical morphology to determine if the patients have a malformation syndrome... - Cerebellar hypoplasia-endosteal sclerosis: a long term follow-upHeval M Ozgen
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 134:215-9. 2005..We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc... - Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndromeEline A Nannenberg
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet A 133:90-2. 2005..The hyperexcitability disappeared in the course of the first year of life. With time it became clear that he was developmentally delayed. A short review is provided, and the resemblance with the Stuve-Wiedemann syndrome is stressed... - Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndromeTaco W Kuijpers
Emma Children s Hospital, Amsterdam, Netherlands
Pediatrics 114:e387-91. 2004..Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common mutations in the SBDS gene (183-184TA-->CT [K62X] and IVS2(258)+2T--> C [C84fs]) were found... - Phenotypic abnormalities: terminology and classificationJohannes H M Merks
Department of Pediatric Oncology Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 123:211-30. 2003.... - Protein-truncating mutations in ASPM cause variable reduction in brain sizeJacquelyn Bond
Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, United Kingdom
Am J Hum Genet 73:1170-7. 2003..Phenotypic variation in the 51 affected individuals occurred in the degree of microcephaly (5-11 SDs below normal) and of mental retardation (mild to severe) but appeared independent of mutation position... - Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneHans R Waterham
Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
Am J Hum Genet 72:1013-7. 2003..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency... - Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn
Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
Am J Hum Genet 72:429-37. 2003..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance... - Further delineation of the chromosome 14q terminal deletion syndromeClara D M van Karnebeek
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet 110:65-72. 2002.... - Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationshipTaco W Kuijpers
Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Blood 106:356-61. 2005..CFU-GMs were impaired in all patients tested. From the SBDS sequence data, we conclude that in patients with genetically proven SDS a genotype-phenotype relationship in SDS does not exist in clinical and hematologic terms... - Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursorsClaire L Navarro
INSERM U491, Faculte de Medecine de Marseille, Marseille, France
Hum Mol Genet 14:1503-13. 2005..These findings have an important impact on our knowledge of the pathophysiology in Progeria and related disorders and will help direct the development of therapeutic approaches... - Etiology of mental retardation in children referred to a tertiary care center: a prospective studyClara D M van Karnebeek
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
Am J Ment Retard 110:253-67. 2005..We found that in a tertiary care center, a diagnosis can be established in 1 out of every 2 patients. Clinical history and physical examination are the most important instruments to reach a diagnosis... - Posterior helical pitsTrine E Prescott
Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Centre, Forskningsveien 2b, 0027 Oslo, Norway
Eur J Med Genet 50:159-61. 2007..We suggest that posterior helical pits, when present, are an excellent diagnostic handle... - Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferaseSaskia A J Lesnik Oberstein
Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
Am J Hum Genet 79:562-6. 2006..This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects... - Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulationValerie L R M Verstraeten
Department of Dermatology, University Hospital Maastricht, P Debyelaan 25, 6202 AZ Maastricht, The Netherlands
Hum Mol Genet 15:2509-22. 2006..In contrast to earlier suggestions, we show that prelamin A accumulation is not the major determinant of the progeroid phenotype... - Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasiaCarlo Bellini
Servizio di Patologia Neonatale, Dipartimento di Pediatria DIPE, Universita di Genova, Istituto G Gaslini, Genova, Italia
Am J Med Genet A 140:678-84. 2006.... - Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivityAli Al Kaissi
Paediatric Orthopaedic Surgery, Children's Hospital, Tunis, Tunisia
Am J Med Genet A 138:374-8. 2005..The familial occurrence is best compatible with autosomal dominant inheritance, showing wide variability of expression. It is possible that the more notable signs in the proband can be explained by homozygosity for the disorder... - Prevalence of rib anomalies in normal Caucasian children and childhood cancer patientsJohannes H M Merks
Department of Pediatric Oncology, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
Eur J Med Genet 48:113-29. 2005..To evaluate the prevalence of abnormalities of rib development in normal Caucasian children and patients with childhood cancer... - Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditionsRoelof Jan Oostra
Department of Anatomy and Embryology, Academic Medical Center, University of Amsterdam, The Netherlands
Am J Med Genet A 136:327-42. 2005..We hypothesize that the chronically raised intracranial pressure in these cases caused the still open lambdoidal sutures to distend and the occipital bone to protrude... - Deficient knowledge of genetics relevant for daily practice among medical students nearing graduationMarieke J H Baars
Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
Genet Med 7:295-301. 2005..CONCLUSIONS: Medical students nearing graduation lack genetic knowledge that is essential for daily practice. Therefore, changes should be made in the medical curricula... - Tourette syndrome, growth retardation, and platyspondyly: an entity?Frederike Y Scheper
Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
Clin Dysmorphol 11:209-11. 2002..A 14-year-old male is described with Tourette syndrome, platyspondyly, a marked delay in bone age, growth retardation that is more expressed in the limbs and talipes equinovarus. This appears to be a new entity...