[Oro-maxillofacial lesions in Silver-Russel syndrome].
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Two male siblings and one girl with the 3-M syndrome are reported. The main clinical features include low birthweight, proportionate dwarfism, hatched-shaped cranio-facial configuration, abnormalities of mouth and teeth, short broad neck with prominent trapezius, pectus deformity, transverse grooves of anterior chest, and winged scapulae.
A case is reported of a 15 years old Chinese female with Larsen syndrome exhibiting many characteristic facial and skeletal features plus hitherto unreported orofacial anomalies including delayed dental development; hypodontia affecting all the permanent canines, second and third molars, maxillary lateral incisors and second premolars; morphological anomalies of the maxillary first premolars and molars; a class 3 skeletal pattern and reduced upper facial height. Cephalometric radiographs showed the skull bones to have an appearance similar to that of osteopetrosis.
Questionnaire data about genetic counseling experiences are presented from 37 parents and 25 patients who were evaluated. The subjects' perceptions vary regarding the cause of cleft lip or palate or both. More positive feelings about the birth defect are expressed after the subjects receive counseling. However, 25 percent of the sample express negative feelings about the birth defect after counseling. Ninety percent of the subjects indicate that counseling should occur within the first 3 months of the birth of the infant with a cleft. The subjects agree significantly on the important components of genetic counseling. The authors conclude that effective counseling includes (1) providing facts, alleviating guilt, and dispelling misperceptions; (2) discussing decision making; and (3) facilitating the coping process. Implications for further research and a protocol for counseling are suggested.
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