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 bones brain cardiac defects cells Child chromosome cleft lip cleft palate Clin clinical clinodactyly congenital Courtesy of Dr Craniofacial crease cryptorchidism deletion diagnosis disease disorder distal drome dysplasia early ears epicanthal folds epiphyses ETIOLOGY facial fected females fetal fifth finger FIGURE gene Genet Genitalia growth deficiency hair height age hernia hydrocephalus hypertelorism hypoplasia hypoplastic hypotonia infant inheritance joint Limbs males malformation mental deficiency mental retardation Microcephaly micrognathia mild morphogenesis multiple mutations nasal bridge NATURAL HISTORY neck neonatal normal nose OCCASIONAL ABNORMALITIES occur ocular palpebral fissures patients pattern Pediatr permission phalanges phenotype philtrum polydactyly posterior postnatal prominent References renal reported ribs risk scoliosis seizures septal defect sequence severe Skeletal skin stenosis strabismus syndactyly syndrome tion tissue toes trisomy trisomy 18 twins usually variable vertebral X-linked