Smith's Recognizable Patterns of Human Malformation: Expert Consult - Online and PrintSmith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. 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.
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Smith's Recognizable Patterns of Human Malformation Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo No preview available - 2013 |
Common terms and phrases
absent adults affected anomalies appearance associated autosomal recessive birth bone broad cardiac cause cell child chromosome cleft cleft palate clinical colleagues common condition congenital Craniofacial defects deficiency delayed Deletion described disease disorder distal drome Duplication Dysplasia early ears et al ETIOLOGY evident eyes facial facies feet females Fetal FIGURE fingers Frequent function gene growth hair hands hearing Hum Genet hypoplasia hypoplastic increased individuals infancy inheritance intellectual disability involved joint lateral leading Limbs loss lower majority males malformation Med Genet mental Microdeletion mild months multiple mutations nasal bridge NATURAL HISTORY normal nose Note OCCASIONAL ABNORMALITIES occur ocular patients pattern Pediatr Performance phenotype prenatal present problems progressive prominent recurrence References region relative renal reported responsible result retardation ribs risk Sequence severe short skeletal skin spectrum stature syndrome third tion toes Trisomy upper usually variable X-linked