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Smith's Recognizable Patterns of Human Malformation, 7th Edition. Expert Consult You can now access Smith's as an eBook or online at Expert Consult. The fifth edition of this book has been expanded, with updated references and superb illustrations. Chapter 1 includes information about the following topics. Smith's recognizable patterns of human malformation. [Kenneth Edition/Format: eBook: Document: English: Seventh editionView all editions and formats.
Top There are thousands of recognized congenital syndromes and sequences that have major impact on the conduct of an anesthetic. When faced with a child with an unusual syndrome, even the most experienced pediatric anesthesiologist often needs a source to consult about the multisystem ramifications that can influence the anesthetic plan. In my experience, there are four major references that can provide quick and comprehensive information and that I recommend in this situation. Although it is incredibly complete, well indexed and hyperlinked, and has extensive search capability, it unfortunately contains no pictures illustrative of the conditions, and anesthesia-specific information is often buried in the details and not readily apparent. It is lavishly illustrated and is compiled in an easy-to-use outline form with extensive indexes and cross-indexes by syndrome, symptom, and physical finding.
Events at birth including fetal distress, oligohydramnios or polyhydramnios, birth weight, length and head circumference, and neonatal behavior and feeding history should be sought.
Details of development history and behavior with formal assessment are very important. Examination of old records, noted findings, and treatment as well as anthropometry details with growth charted over time can assist to reach a conclusive diagnosis in some cases.
Examination of the Fetus for Malformations and Dysmorphism A thorough head-to-toe examination of the fetus is essential, whether performed antenatally by ultrasound or after discontinuation of the pregnancy.
Evaluation of morphology with a keen and systematic eye by a good dysmorphologist is the key to making a diagnosis. Knowledge of the nature and pattern of anomalies, as illustrated below, is important and the first step to making a diagnosis. Recognition of the pattern of anomalies and diagnosis of a malformation syndrome is essential to counsel families. However at times, despite all efforts, a diagnosis cannot be made.
In these cases, recognition of the nature and pattern of the anomalies, referred to below, may help determine the underlying cause, prognosis, and recurrence risks for appropriate counseling.
Single Primary Defect or Multiple Birth Defects When an anomaly is identified, it is important to differentiate a single primary anomaly from those associated with multiple defects [ 19 ]. This simplified categorization of the pattern of anomalies according to the type of developmental error that produced the defect is useful to determine the genetic basis of the birth defect and in counseling for recurrence risks. A malformation is an anomaly of structure that occurs due to an error in morphogenesis.
A malformation can be major or minor. A major malformation is one that is severe and interferes with function, e. Some major malformations, like the following, suggest a specific disorder: Left-sided heart defects e. In this case the parents should be evaluated for tuberous sclerosis, an autosomal dominant genetic disorder Atrioventricular canal defects in Down syndrome Duodenal atresia in Down syndrome Minor malformations are mainly of cosmetic significance and may be difficult to pick up on an antenatal scan.
However, they should be looked for postnatally, as multiple minor malformations are important phenotypic features of some syndromes Fig. The presence of two or more minor anomalies also increases the likelihood of a major malformation that must be looked for, if not overt.
Open image in new window Fig. Examination showed multiple minor malformations—a Depressed bridge of nose, upslant of left eye, small, low-set ears and simian crease with clinodactyly.
The type of the anomaly is a consequence of the stage of embryogenesis at which the teratogenic or genetic factor occurred and this information can be useful to guide prognosis. However, it is important to note that these distinctions may not be absolute.
The clinical relevance of differentiating birth defects as above is to help formulate a differential diagnosis to serve as a guide for further investigations. Deformations are abnormalities of shape and form of a normally differentiated structure. They usually occur late in fetal life compared to malformations that are of embryonic origin.
The common causes include extrinsic abnormal mechanical forces e. A common example is talipes equinovarus, which can occur secondary to oligohydramnios or as a result of fetal akinesia due to a primary hereditary neuromuscular etiology.
Disruptions are anomalies that occur due to abnormal extrinsic factors in a previously normal tissue. The common disruptive forces include floating amniotic bands and interruption of blood supply. An example is the amniotic band syndrome presenting with asymmetric limb amputations and associated bizarre malformations as shown in the Fig.
Chapter 1H: Facial Defects as Major Feature. Chapter 1I: Facial-Limb Defects as Major Feature. Chapter 1J: Limb Defect as Major Feature. Chapter 1K: Chapter 1L: Osteochondrodysplasia with Osteopetrosis. Chapter 1M: Craniosynostosis Syndromes. Chapter 1N: Other Skeletal Dysplasias. Chapter 1O: Storage Disorders. Chapter 1P: Connective Tissue Disorders. Chapter 1Q: Chapter 1R: This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Key Features. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1, full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Dysmorphology Approach and Classification.
Recognizable Patterns of Malformation.
Senile-Like Appearance. Early Overgrowth with Associated Defects. Facial Defects As Major Feature.