Abstract
Weaver syndrome was initially described as an overgrowth syndrome with advanced bone age and characteristic facies in two unrelated males (Weaver et al., 1974). Subsequent reports included only sporadic cases. More recently, autosomal dominant inheritance has been established (Fryer et al., 1997; Proud et al., 1998). In these multiplex families, the diagnosis has not been readily apparent in affected parents. This difficulty appears to be related to the evolving phenorype (Greenberg et al., 1989) and variability in expression with biased ascertainment Anticipation may be operative, but analysis of additional families is needed to support this suggestion.
This reports describes affected half-brothers who manifest tall stature, advanced bone age, camptodactyly, characteristic facies, mild contractures of major joints and developmental delay. Their father, apart from tall stature (206.5 cm) had normal hands and facies and no joint restrictions. Photographs of the father as a child did not show facial features suggesting Weaver syndrome and he had had normal cognitive development as a child. However, all three had an element of cervical kyphosis and lateral films of the cervical spine demonstrated odontoid hypoplasia and anomalous development of C-3 in one brother, C-4 in the other brother and C-5 in the father. MRI's demonstrated stenosis of the cervical spine but no evidence of spinal cord compression. All three had broad femoral necks.
The proband in the family was diagnosed prenatally to have a sacrococcygeal teratoma that was surgically removed neonatally. Two additional instances of tumors in children with Weaver syndrome are known to the author. These observations suggest that the underlying defect in Weaver syndrome may involve a growth factor which predisposes to tumor formation.
A collaborative effort is underway to map the Weaver syndrome gene. Additional families with this disorder are being sought for this project. Potential collaborators may contact the author at TEK8S@virginia.edu.
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Kelly, T. Cervical spine anomalies in Weaver syndrome; a diagnostic clue in adults. Genet Med 2, 79 (2000). https://doi.org/10.1097/00125817-200001000-00100
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DOI: https://doi.org/10.1097/00125817-200001000-00100