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Smith's recognizable patterns of human malformation

By: Contributor(s): Language: English Publication details: Philadelphia : Elsevier, Inc., 2022Edition: 8th edDescription: 1 online resource (xxii, 998 pages):illustrations (chiefly color)ISBN:
  • 9780323638838
  • 9780323638821
Subject(s): Online resources:
Contents:
Dysmorphology approach and classification -- Recognizable patterns of malformation -- Deletion, duplication, and microduplication syndromes identifiable using molecular technology -- Very small stature, not skeletal dysplasia -- Moderate short stature, facial, ± genital -- Senile-like appearance -- Early overgrowth with associated defects -- Unusual brain and/or neuromuscular findings with associated defects -- Facial defects as major feature -- Facial-limb defects as major feature -- Limb defect as major feature -- Osteochondrodysplasias -- Osteochondrodysplasia with osteopetrosis -- Craniosynostosis syndromes -- Other skeletal dysplasias -- Storage disorders -- Connective tissue disorders -- Hamartoses -- Ectodermal dysplasias -- Environmental agents -- Miscellaneous syndromes -- Miscellaneous sequences -- Spectra of defects -- Miscellaneous associations -- Genetics, genetic counseling, and prevention -- Minor anomalies : clues to more serious problems and to the recognition of malformation syndromes -- Normal standards."
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Holdings
Item type Home library Class number Status Date due Barcode
Electronic book Newham Library (Barts Health) Online Available
Electronic book Royal London Library (Barts Health) Online Available
Electronic book St Bartholomew's Library (Barts Health) Online Available
Electronic book Whipps Cross Library (Barts Health) Online Available

Dysmorphology approach and classification -- Recognizable patterns of malformation -- Deletion, duplication, and microduplication syndromes identifiable using molecular technology -- Very small stature, not skeletal dysplasia -- Moderate short stature, facial, ± genital -- Senile-like appearance -- Early overgrowth with associated defects -- Unusual brain and/or neuromuscular findings with associated defects -- Facial defects as major feature -- Facial-limb defects as major feature -- Limb defect as major feature -- Osteochondrodysplasias -- Osteochondrodysplasia with osteopetrosis -- Craniosynostosis syndromes -- Other skeletal dysplasias -- Storage disorders -- Connective tissue disorders -- Hamartoses -- Ectodermal dysplasias -- Environmental agents -- Miscellaneous syndromes -- Miscellaneous sequences -- Spectra of defects -- Miscellaneous associations -- Genetics, genetic counseling, and prevention -- Minor anomalies : clues to more serious problems and to the recognition of malformation syndromes -- Normal standards."

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