1994
DOI: 10.1097/00019605-199404000-00011
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Ear anomalies, clefting and limb reduction defects

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Cited by 2 publications
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“…The vast majority of these cases have, in addition to HRS, MCA including skeletal anomalies. The described skeletal anomalies can be grouped into four main categories of: (i) craniosynostosis [Allain et al, 1976;Ives and Houston, 1980;Barone et al, 1993;Samson and Gardner, 1996;Shotelersuk et al, 2002], (ii) symphalangism [Park et al, 1972;Schinzel, 1980;Richieri-Costa and Pagnan, 1986;Schumacher et al, 1988;Sahoo et al, 1996], (iii) limb reduction, [Glass et al, 1994;Marles et al, 2003], and (iv) other skeletal defects [Keutel et al, 1970;Hughes et al, 1982;Van Gelderen, 1982;Alsing and Christensen, 1988;Chrzanowska et al, 1989;Faivre et al, 2001]. None of these cases would fit the findings in our patients.…”
Section: Discussionmentioning
confidence: 99%
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“…The vast majority of these cases have, in addition to HRS, MCA including skeletal anomalies. The described skeletal anomalies can be grouped into four main categories of: (i) craniosynostosis [Allain et al, 1976;Ives and Houston, 1980;Barone et al, 1993;Samson and Gardner, 1996;Shotelersuk et al, 2002], (ii) symphalangism [Park et al, 1972;Schinzel, 1980;Richieri-Costa and Pagnan, 1986;Schumacher et al, 1988;Sahoo et al, 1996], (iii) limb reduction, [Glass et al, 1994;Marles et al, 2003], and (iv) other skeletal defects [Keutel et al, 1970;Hughes et al, 1982;Van Gelderen, 1982;Alsing and Christensen, 1988;Chrzanowska et al, 1989;Faivre et al, 2001]. None of these cases would fit the findings in our patients.…”
Section: Discussionmentioning
confidence: 99%
“…Glass et al [1994] Absent right arm, absent proximal part of the left humerus Agenesis of the corpus callosum, porencephaly, cleft palate, malformed ears. Patient's sibling had similar facial features without the skeletal Samson and Gardner [1996] Craniosynostosis, aplastic thumbs, contractures of elbows and knees Hydrocephalus, brain abnormalities Sahoo et al [1996] Humero-ulnar, carpal, and metacarapal synostoses, ulnar hypoplasia, cleft hand Faivre et al [2001] Absent clavicles, oligodactyly Severe growth retardation Shotelersuk et al [2002] Craniosynostosis, clover-leaf skull, broad thumbs and great toes, severe multiple bony ankyloses of vertebrae, and large and small joints aromelic frontonasal dysplasia, posterior PFM were also detected [Hing et al, 2004].…”
Section: Discussionmentioning
confidence: 99%