The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases
A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or...
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| Veröffentlicht in: | American journal of medical genetics 1988-08, Vol.30 (4), p.883-904 |
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| container_title | American journal of medical genetics |
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| creator | Hageman, Gerard Ippel, Elly P. F. Beemer, Frits A. de Pater, Joke M. Lindhout, Dick Willemse, Jakobus |
| description | A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories “cerebral dysgenesis”, spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: (1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; (2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and (3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography. |
| doi_str_mv | 10.1002/ajmg.1320300404 |
| format | Article |
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A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: (1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; (2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and (3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320300404</identifier><identifier>PMID: 3189411</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>amyoplasia ; anterior horn cell degeneration ; arthrogryposis ; Biological and medical sciences ; Brain - abnormalities ; Child ; Child, Preschool ; Contracture - congenital ; Contracture - diagnosis ; Contracture - genetics ; Dermatoglyphics ; Diseases of striated muscles. 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F.</creatorcontrib><creatorcontrib>Beemer, Frits A.</creatorcontrib><creatorcontrib>de Pater, Joke M.</creatorcontrib><creatorcontrib>Lindhout, Dick</creatorcontrib><creatorcontrib>Willemse, Jakobus</creatorcontrib><title>The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories “cerebral dysgenesis”, spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: (1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; (2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and (3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.</description><subject>amyoplasia</subject><subject>anterior horn cell degeneration</subject><subject>arthrogryposis</subject><subject>Biological and medical sciences</subject><subject>Brain - abnormalities</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Contracture - congenital</subject><subject>Contracture - diagnosis</subject><subject>Contracture - genetics</subject><subject>Dermatoglyphics</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Female</subject><subject>fetal hypokinesia</subject><subject>Genetic Counseling</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>Neuromuscular Diseases - congenital</subject><subject>Prenatal Diagnosis</subject><subject>Prospective Studies</subject><subject>Spinal Cord - abnormalities</subject><subject>ultrasonography</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtvEzEURi0EKmlhzQrJC8RuWj_HNqyi0gaqlm5SsbQ8njvTKfMotkch_x5HiYJYsbLle87nqw-hd5ScU0LYhXsa2nPKGeGECCJeoAUlpix0yfRLtCBU6EIxY16j0xifCKH5gZ2gE061EZQukFs_Aq47145TTJ3HgxtdCwOMCU8NHmFTTWGMeNOlR-ynsYWxS67fXVNwPs0B4ie8xNme-qnNATHN9XbnKom9ixDfoFeN6yO8PZxn6OH6an35tbi9X327XN4WXuTFi1qTqtEeQINvgLJGyUbXhNdU14bWklFPKWOGcy6EqspKUMUkdUxJUQoo-Rn6uM99DtOvGWKyQxc99L0bYZqjVVoyKYnJ4MUe9GGKMUBjn0M3uLC1lNhdqXZXqv1bajbeH6LnaoD6yB9azPMPh7mL3vVNcKPv4hErtTAl4xn7vMc2XQ_b__1qlzd3q3-WKPZ2FxP8Ptou_LSl4kraH99X1ii55tdfdM75A21enyo</recordid><startdate>198808</startdate><enddate>198808</enddate><creator>Hageman, Gerard</creator><creator>Ippel, Elly P. 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Neuromuscular diseases</topic><topic>Female</topic><topic>fetal hypokinesia</topic><topic>Genetic Counseling</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Neurology</topic><topic>Neuromuscular Diseases - congenital</topic><topic>Prenatal Diagnosis</topic><topic>Prospective Studies</topic><topic>Spinal Cord - abnormalities</topic><topic>ultrasonography</topic><toplevel>online_resources</toplevel><creatorcontrib>Hageman, Gerard</creatorcontrib><creatorcontrib>Ippel, Elly P. 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F.</au><au>Beemer, Frits A.</au><au>de Pater, Joke M.</au><au>Lindhout, Dick</au><au>Willemse, Jakobus</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1988-08</date><risdate>1988</risdate><volume>30</volume><issue>4</issue><spage>883</spage><epage>904</epage><pages>883-904</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories “cerebral dysgenesis”, spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: (1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; (2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and (3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>3189411</pmid><doi>10.1002/ajmg.1320300404</doi><tpages>22</tpages></addata></record> |
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| subjects | amyoplasia anterior horn cell degeneration arthrogryposis Biological and medical sciences Brain - abnormalities Child Child, Preschool Contracture - congenital Contracture - diagnosis Contracture - genetics Dermatoglyphics Diseases of striated muscles. Neuromuscular diseases Female fetal hypokinesia Genetic Counseling Humans Infant Infant, Newborn Male Medical sciences Neurology Neuromuscular Diseases - congenital Prenatal Diagnosis Prospective Studies Spinal Cord - abnormalities ultrasonography |
| title | The diagnostic management of newborns with congenital contractures: A nosologic study of 75 cases |
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