|Year : 2022 | Volume
| Issue : 1 | Page : 99-101
Smith's recognizable patterns of human malformation, 8th edition
Prashant Kumar Verma
Department of Paediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
|Date of Submission||30-Jun-2020|
|Date of Decision||09-Jan-2021|
|Date of Acceptance||01-Jan-2022|
|Date of Web Publication||28-Apr-2022|
Dr. Prashant Kumar Verma
Department of Paediatrics, All India Institute of Medical Sciences, Virbhadra Road Shivaji Nagar, Near Barrage, Sturida Colony, Rishikesh - 249 203, Uttarakhand
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Verma PK. Smith's recognizable patterns of human malformation, 8th edition. J Med Evid 2022;3:99-101
| The Chief Essential Part of This Book|| |
The eighth edition of Smith's Recognizable Patterns of Malformation' is a revised and updated latest version related to congenital disabilities. It has four chapters and one appendix. The enhanced digital version has added notes and highlighted facilities. The number of sections is slightly revised as a correlation with updated knowledge.
Current literature and online resources are available to human genetics and dysmorphology; however, it is vast. None of the single assets are adequate to depict human malformation syndromes. The more significant part of those data is not available as a single resource with a systemic manner, unmistakable and characteristic photographs, easy to get hold and find a fast impression. A non-expert individual looking through a disorder from the accessible online assets is very troublesome because of an absence of understanding fundamental procedures for syndromic searching and utilising inappropriate peculiarities as a key finding. Utilisation of distinctive Medical Subject Headings (MeSH) terms for the anomaly in searching through several differential diagnoses. An aggregate of 25,406 entries was entitled in Online Mendelian Inheritance in Man (OMIM). Looking through a condition without a systemic path led to colossal time loss and failed to get the result. The latest edition is designed to try the best exertion to this challenging subject's disentanglement. Even a clinical undergraduate can utilise it for syndromic search in significantly advanced digital versions. Each clinician should use this book in childcare because hereditary conditions' aggregate pervasiveness is high if we incorporate the mild presentation.
The first chapter centres around the approach dysmorphic case and the Authors' exertion to classify all single-gene dysmorphic conditions in broad categories of specific body framework inclusions except for starting 'A,' 'B', and last 'S, T, U, V' and W sections. Section A and Section B are identified with special conditions related to gene dosages variations from the norm (chromosomal disorders, microdeletion, and duplication disorders). Area 'S' identified with well-characterised congenital disabilities reported with teratogenic agents. Even though Section 'T' likewise identified with single-gene dysmorphic disorder yet did not fit any section. Sections 'U, V, and W' are congenital disabilities because of polygenic inheritance.
Sections 'C' to 'R' are characterised based on a significant involvement of a particular system or body part and typically cause medical consultation concerns. Sections 'K, L, M and N' are identified with conditions related to predominantly skeletal system inclusion, and Section 'R' enrolled the syndromic entries distinguished by anomalies of ectodermal derivatives [Table 1].
|Table 1: Broad categories of particular body system involvements in section 'C to R'|
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Based on the characteristic Key findings, Section 'C to R' of Part 1 with single-gene disorders could be separated into the following five fundamental categories as the disorder with fascial and limb anomalies (D, H, I, J, O), syndromes with skeletal dysplasia (K, L, M, N), inherited conditions with ectodermal involvement (P, S, R, E), a disorder with critical growth abnormalities (C, F) and syndromes with complex neurological involvement (G). Connective tissue disorders also have prevailed in skeletal findings other than ectodermal changes. Other sections are excluded from this group in light of intricate hereditary qualities and having different Key findings. Conditions talked about in Part 1 are given as [Annexure 1] with their subheadings [Figure 1]. There are a few changes in all sections in Chapter 1 in this revised version added as Supplementary Material.
Every section has included common and well-defined human malformations with the most reported characteristic features included in the title of each syndrome, for example, FG disorder (Optiz-Kaveggia Syndrome), imperforate anus, hypotonia and prominent forehead. Hence, FG syndrome case has been reported in the literature with the constellation of these anomalies more frequently, and it does significantly help for searching the syndrome under the subheading of a particular section.
Each syndrome is discussed systematically, beginning with a brief history, trailed by the description of system-wise abnormalities, including rare reporting. Authors likewise included typical history and genetic aetiology of each entry and attempted to include extra information such as subtype classification and clinical information in their comment section. Every disorder has different original pictures of abnormalities, as discussed with the topic. It helps understand the MeSH terminology and identify distinguishing features of the specific condition, even the absence of aptitude in that subject.
Molecular characterisations of hereditary issues and the mechanism of genomic disorders are discussed in the comment subheading exceptionally in standard-way. The Principle of different types of mode of inheritance is also discussed with pathophysiology, and a small introductory section for genetic counselling is included in Chapter 2.
In Chapter 3, the authors made the best attempt to show the clinical significance of minor anomalies and expand on the typical minor irregularities with their photographs and enlightening instances of chosen conditions.
Chapter 4 has the collections of standard CDC growth charts and following other published growth graphs for head circumference beyond five years, chest circumference, hand, palm and middle finger lengths, foot length, palpebral fissure, interpupillary, inner, outer canthal lengths, ear length, testicular length and volume and external genitals lengths.
The Appendix is structured as an offline and online searching engine for getting a differential diagnosis for a specific anomaly or clinical finding [Table 2]. The syndromic conclusion is given in two classifications as frequent and infrequent for each anomaly on the basis of the rate of anomaly occurrence. Congenital disabilities discussed in Chapter 1 were utilised for differential diagnosis. Intellectual deficiency and growth retardation did not enroll inside the clinical finding because of the regular presence in most congenital disabilities. Subtleties of heading and subheading utilised for giving differential findings are depicted in.
| Demerits/Limitations of the Book|| |
There is a limitation for sub-category grouping for the dysmorphic features even after the authors tried to classify dysmorphology as depicted in [Table 1]. Most of the syndrome has been recently identified as genetically heterogeneous, and the aetiology section cannot be updated very frequently in hard copy.
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Conflicts of interest
There are no conflicts of interest.
| Supplementary Material|| |
[Table 1], [Table 2]