Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.
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We have presented a classification scheme to help in evaluating the diagnosis of stridor in the pediatric patient. The correct diagnosis can usually be arrived at on the basis of a careful and complete history, physical examination, appropriate radiographic studies and bronchoscopy. The anesthesiologist should be aware of the problems associated with all these conditions. In every instance prompt establishment of an adequate airway is imperative. (+info)
Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence.
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A case of cleft palate and accessory metacarpal of index finger syndrome is described and related to the presence of Pierre Robin syndrome in a stillborn sibling. The significance of this relationship is discussed. (+info)
Proximal femoral focal deficiency associated with the Robin anomalad.
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A case of unilateral proximal femoral focal deficiency (PFFD) and the Robin anomalad is reported. Since bilateral PFFD and unusual facies have been reported before, we suggest an association between the Robin anomalad and PFFD. (+info)