Smith's Recognizable Patterns of Human Malformation
This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
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Recognizable Patterns of Malformation
B VERY SMALL STATURE NOT SKELETAL DYSPLASIA
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50 per cent ABNORMALITIES Growth achondroplasia affected individuals agenesis and/or anomalies Arch associated atresia Autosomal dominant Autosomal recessive birth bones cardiac defects cells Child Chondrodysplasia chromosome cleft lip cleft palate Clin clinical congenital Craniofacial crease cryptorchidism Deletion diagnosis disease disorder distal drome Duplication Dysostosis early ears Ectodermal Dysplasia epicanthal folds epiphyses ETIOLOGY facial facies fected females Fetal fifth finger FIGURE Frequent gene Genet Gorlin growth deficiency hair hernia hypertelorism hypoplasia hypoplastic hypotonia iiiiiiiiii iiiiiiiiii iiiiiiiiii infant joint Limbs males malformation mental deficiency mental retardation Metaphyseal Microcephaly micrognathia mild morphogenesis multiple mutations nasal bridge NATURAL HISTORY neonatal normal OCCASIONAL ABNORMALITIES occur ocular Osteogenesis Imperfecta palpebral fissures patients pattern Pediatr phalanges phenotype polydactyly posterior postnatal prominent References renal reported ribs risk scoliosis seizures septal defect Sequence severe short Skeletal skin stature stenosis strabismus syndactyly syndrome synostosis tion tissue toes Trisomy 18 twins usually variable vertebral X-linked