describe the consensus criteria for clinical dignosis of these two syndromes. ...
comprehensive textbook of anatomy in three volumes. The author wrote these ...
Indian J Med Res 138, July 2013, pp 153-155
Book Reviews
Old and new entities with Rett or Angelman syndrome - like intellectual disability, A. Rauch, editor (Karger, Basel, Switzerland) 2012. 142 pages. Price: not mentioned. ISBN 978-3-8055-9968-9
genetic studies carried out in patients presenting with Angelman syndrome, Rett syndrome and many other Rett-like symdromes. Molecular biology of UBE3A, MECP2, CDKL5, FOXG1, MEF2C, TCF4, CNTNAP2, NRXN1,22q13.3, EHMT1, FOX P1 and SCN1A and the disorders caused by mutations of these genes are described well in the respective articles. It is interesting to read the history of the syndromes and clinical details of patients studied. Clinical photographs help to identify minor dysmorphic features associated with the well-known disorders and new syndromes described in the articles.
Angelman and Rett syndromes remain the major genetic disorders associated with mental retardation or intellectual disability (ID) in absence of metabolic markers, gross malformations and major dysmorphic features. There are 12 articles that give reviews of different syndromes in detail. All the syndromes described in this book have a common factor of varying degree of intellectual disability. The articles describe the consensus criteria for clinical dignosis of these two syndromes. There is a detailed description of
All articles give schematic diagrams of gene abnormalities observed in these disorders. An extensive
Article. No. Name of syndrome
First described in year
Molecular biology / Genotype consideration
1
Angelman syndrome (AS)
1965 Harry Angleman
Disruption of function of maternally inherited ubiquitinprotein linkage E 3A (UBE 3A) gene that lies within 15q11.2-q13
2
Rett syndrome (RS)
1954 Andreas Rett
Mutations in MECP2 gene located in q28 region
3
MECP2 duplication syndrome 1999 Lubs et al
Increased dosage of MECP2 gene in Xq28
4
Rett variants
1985 Hanefeld
CDKLS Mutation
5
Rett variants
2005 Shoichet et al
FOXG1 gene abnormality
6
Microdeletion syndrome
2009 Engles et al
MEF2C deficiency - 5q14 microdeletion TCF4 deficiency
7
Pitt-Hopkin syndrome
1978 David Pitt and Ian Hopkin
Microdeletion 18Q21.2
8
Severe ID
2003 Verkerk et al
CNTNA 2 & NRXN1 Variants
9
Phelan-Mc Dermid syndrome 1985 Watt et al
SHANK 3 Abnormility - 22q13.3 deletion
10
Kleefstra syndrome
EHMT1 - 9q34.3 Microdeletion
11
Mild to Moderate ID
2001 Lai et al
FOXP1 deletions and mutations
12
Adult phenotypes in AS and RS
EHMT1, TCF4, MECP2, CDKL5 & SCN1A
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INDIAN J MED RES, July 2013
description of molecular studies of these disorders will be of great benefit to the researchers in the field of mental retardation / intellectual disabilities. Most articles describe genetic counselling and prenatal diagnosis whenever possible. The list of references at the end of each article is exhaustive. The following Table provides a summary of information given in the 12 articles The articles are written in a simple and lucid language. Most studies add new knowledge to the existing understanding of the syndromes. However, there is repetition of description of Rett syndrome, which could have been avoided. Natural history, diagnostic testing, genotypephenotype correlation and differential diagnosis of Angelman syndrome are well described in the first article. Article 2 describes the diagnostic criteria and staging system of clinical symptoms in details. Article on MECP2 duplication syndrome clearly describes clinical features, neuro-radiological features and genotype-phenotype correlation. Article on CDKL5related disorders gives an overview of clinical features, neuro-radiological features, structure and function of CDKL5 gene. Clinical features of disorder related to chromosome 14q 12 and the structure and function of FOXG1 gene are well described in article on FOXG1 related disorders. Article on Pitt Hopkin syndrome describes clinical features with photographs, natural history and diagnosis in detail. History of 22q13.3 deletion syndrome along with clinical features, photographs, differential diagnosis and natural history is very well described in the article related to PhelanMc Dermid syndrome. Article on Kleefstra syndrome lucidly describes molecular data and clinical data with photographs of patients diagnosed with EHMT1 gene abnormalities. The editor has done an excellent work of compiling these articles and presenting these in a uniformly systematic pattern. It is interesting to learn about extensive genetic studies carried out by researches of European Union. Madhuri Kulkarni Learning Disability Clinic Division of Pediatric Neurology Department of Pediatrics Lokmanya Tilak Municipal Medical College & General Hospital Mumbai 400 020, India
[email protected]
Recent human anatomy: Regional and clinical, vol. II, Thorax, abdomen, pelvis and perineum, 1st ed. Jagannath Prasad (Macmillan Publishers India Limited, Delhi) 2012. 483 pages. Price: ` 858.00 ISBN 978-935-059-100-0 The author’s objective was to provide a comprehensive textbook of anatomy in three volumes. The author wrote these books from his vast teaching experience. There is no doubt that the author is an outstanding and skilled teacher who has his own way of teaching, but it is also true that all excellent teachers are not always high-quality writers. In India, most of the gross anatomists write a textbook at the end of their teaching career. This textbook is not different from the other textbooks available in the market written by Indian authors. The Medical Council of India (MCI) has changed the anatomy curriculum and an undergraduate student gets hardly nine months to study anatomy. This fact has not been kept in mind while writing this book. Even Gray’s Anatomy has come with a simplified version for students, but one is yet to see a student’s edition of anatomy textbook written by an Indian author. Most of the Indian medical schools advocate the Cunningham’s Dissection Manual, as it gives complete information about the dissection and identification of each and every anatomical structure. The author’s thought processes have been put collectively and made available in a textbook format. There are tips, mnemonics and lists of questions to bring out the relevance and basic principles of anatomy. The author’s philosophy has been translated in the book, thereby in many occasions the language is telegraphic. For example, in descriptions concerning descent of testis the author writes “In search of cooler temperature the testis descends….” Does testis search for a cooler temperature in the intrauterine life? Regarding subdivisions of gut he writes “The gut is subdivided into following three parts: 1. Foregut: For digestion supplied by celiac artery, 2: Midgut: For digestion and absorption supplied by…..” The author provides incorrect information as well as mixes dissimilar information: subdivisions, functions and blood supply do not match with the title. In many places line diagrams have been drawn incorrectly. Two diagrams show the abdominal aorta behind the “Medial arcuate ligament”, it should be “Median arcuate ligament”. One figure shows the psoas major muscle taking origin from the intervertebral disc, which is not true. The formula for sacral index is incorrect. There
Book Reviews
are innumerable examples of incorrect and incomplete information, old concepts, odd English throughout the book. The histology and embryology sections are to be completely rewritten. The clinical anatomy section is full of old and incorrect concepts. At the end of the book some sectional anatomy drawings are given. It would have been better to give these drawings along with the real CT or MR pictures. X-ray, MR and CT pictures are hopelessly catastrophic. A similar comment is applicable for the MCQ section. The book should
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be edited by a language editor and a technical expert before it is released in the market. The clinical anatomy section should be updated by a clinician. T.S. Roy Department of Anatomy All India Institute of Medical Sciences, Ansari Nagar New Delhi 110029, India
[email protected] [email protected]
