Raoul C M Hennekam

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Rubinstein-Taybi syndrome
    Raoul 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
  2. doi request reprint Elements of morphology: standard terminology for the nose and philtrum
    Raoul 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
  3. ncbi request reprint What to call a syndrome
    Raoul 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
  4. ncbi request reprint Robert J. Gorlin (1923-2006): teacher, colleague, and friend
    Raoul 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
  5. doi request reprint Phenotype and natural history in Marshall-Smith syndrome
    Adam C Shaw
    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
    Am J Med Genet A 152:2714-26. 2010
  6. doi request reprint Interpreting humanity's genes
    Adam 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
  7. ncbi request reprint 3D analysis of facial morphology
    Peter Hammond
    Eastman Dental Institute, UCL, London, United Kingdom
    Am J Med Genet A 126:339-48. 2004
  8. doi request reprint Nicolaides-Baraitser syndrome: Delineation of the phenotype
    Sérgio B Sousa
    Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
    Am J Med Genet A 149:1628-40. 2009
  9. ncbi request reprint Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
    Mieke M van Haelst
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Med Genet A 143:3194-203. 2007
  10. doi request reprint Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
    Khalid Hussain
    Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
    Pediatr Diabetes 10:193-7. 2009

Detail Information

Publications61

  1. ncbi request reprint Rubinstein-Taybi syndrome
    Raoul 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...
  2. doi request reprint Elements of morphology: standard terminology for the nose and philtrum
    Raoul 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...
  3. ncbi request reprint What to call a syndrome
    Raoul 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
  4. ncbi request reprint Robert J. Gorlin (1923-2006): teacher, colleague, and friend
    Raoul 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
  5. doi request reprint Phenotype and natural history in Marshall-Smith syndrome
    Adam 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...
  6. doi request reprint Interpreting humanity's genes
    Adam 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...
  7. ncbi request reprint 3D analysis of facial morphology
    Peter 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...
  8. doi request reprint Nicolaides-Baraitser syndrome: Delineation of the phenotype
    Sérgio 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...
  9. ncbi request reprint Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
    Mieke 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...
  10. doi request reprint Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
    Khalid 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...
  11. ncbi request reprint LEOPARD syndrome with partly normal skin and sex chromosome mosaicism
    Karin 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...
  12. ncbi request reprint 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...
  13. ncbi request reprint Immunological abnormalities in CHARGE syndrome
    Karin 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...
  14. doi request reprint Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy
    Sérgio 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...
  15. ncbi request reprint Hutchinson-Gilford progeria syndrome: review of the phenotype
    Raoul 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...
  16. ncbi request reprint Cranio-osteoarthropathy in sibs
    Tabib 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...
  17. ncbi request reprint The Peters' plus syndrome: a review
    Liesbeth 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...
  18. ncbi request reprint Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
    Margaret 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...
  19. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco 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...
  20. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  21. doi request reprint Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report
    Isabel 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...
  22. pmc 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
    ....
  23. ncbi request reprint Normal values for morphological abnormalities in school children
    Johannes 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...
  24. ncbi request reprint Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome
    Gretel 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...
  25. ncbi request reprint 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...
  26. ncbi request reprint Further delineation of Frank-ter Haar syndrome
    Saskia 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...
  27. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  28. doi request reprint Prevalence and patterns of morphological abnormalities in patients with childhood cancer
    Johannes 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...
  29. ncbi request reprint Costello syndrome: an overview
    Raoul 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...
  30. ncbi request reprint Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndrome
    Inge 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...
  31. ncbi request reprint Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers
    Lieke 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...
  32. ncbi request reprint Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review
    Inge D C Van Balkom
    Child and Adolescent Psychiatry Clinic, Oranjestad, Aruba, Dutch West Indies
    Am J Med Genet 112:412-21. 2002
    ....
  33. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer 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...
  34. ncbi request reprint Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12
    Ellen 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...
  35. ncbi request reprint Growth hormone analysis and treatment in Ellis-van Creveld syndrome
    Florens 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...
  36. doi request reprint The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
    Miriam 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...
  37. doi request reprint Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats
    Daniel 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...
  38. ncbi request reprint Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome
    Eric 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...
  39. pmc Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Francesca 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...
  40. ncbi request reprint Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome
    Zahurul 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...
  41. ncbi request reprint High incidence of malformation syndromes in a series of 1,073 children with cancer
    Johannes 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...
  42. ncbi request reprint Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up
    Heval 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...
  43. ncbi request reprint Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome
    Eline 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...
  44. ncbi request reprint Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome
    Taco 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...
  45. ncbi request reprint Phenotypic abnormalities: terminology and classification
    Johannes 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
    ....
  46. pmc Protein-truncating mutations in ASPM cause variable reduction in brain size
    Jacquelyn 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...
  47. pmc Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    Hans 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...
  48. pmc 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...
  49. ncbi request reprint Further delineation of the chromosome 14q terminal deletion syndrome
    Clara 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
    ....
  50. ncbi request reprint Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
    Taco 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...
  51. ncbi request reprint Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
    Claire 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...
  52. ncbi request reprint Etiology of mental retardation in children referred to a tertiary care center: a prospective study
    Clara 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...
  53. ncbi request reprint Posterior helical pits
    Trine 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...
  54. pmc Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
    Saskia 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...
  55. ncbi request reprint Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation
    Valerie 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...
  56. ncbi request reprint Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia
    Carlo 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
    ....
  57. ncbi request reprint Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity
    Ali 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...
  58. ncbi request reprint Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients
    Johannes 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...
  59. ncbi request reprint Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions
    Roelof 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...
  60. ncbi request reprint Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation
    Marieke J H Baars
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Med 7:295-301. 2005
    ....
  61. ncbi request reprint 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...