DEDICATION This dissertation is dedicated to the nineteen study participants. This work would not have been possible without their tremendous support and their willingness to share their stories. I commend them for the care they provided and for courageously accepting one of life's most difficult challenges. This dissertation is also dedicated to memory of my maternal grandmother, Anne Barry Sm...

Ovarian teratomas in prepubertal females are uncommon, but familial ones are exceedingly rare. We report an ovarian teratoma in an 8-year-old girl, her mother, and her maternal grandmother. The risk of a metachronous tumor and subsequent complications (such as torsion) in the contralateral ovary remain unclear. There is no clear guidance on follow-up management of patient and family members in ...

This three-generational study investigated family histories of attachment relationships and abusive experiences as well as current functioning of family members that differentiate supportive from unsupportive mothers of sexually abused children. Interviews and standardized adult and child measures were administered to a sample, including (a) 99 nonoffending African American mothers and their ch...

A three year old Nigerian girl presented with features suggestive of Goldenhar syndrome. The patient presented with lacrimation in the left eye and this prompted the maternal grandmother to bring the child to the hospital. No similar occurrence in the family of the patient. Multidisciplinary approach was adopted in the care of the patient. However no significant systemic abnormality was discove...

Ghysels (2012) argues for a ‘gendered need’ explanation of lineage based differences in grandparental investment. Maternal grandmothers are subsidiary care-givers: only if mothers fail to fulfil this gender role, (maternal) grandmothers will step in. The SHARE data do indeed seem to support this explanation (though see Appendix). However, it is not at odds with an evolutionary explanation, such...

Monozygous twin sisters developed ulcerative colitis within 7 years of each other. Both had distal colitis confirmed by histology and radiology. Their maternal grandmother subsequently developed the disease. The long interval between the onset of the disease in the twins suggests a role for environmental factors in addition to genetic influences. Although about five hundred sets of twins with u...

Mutation in the insulin-like growth factor-1 receptor (IGF1R) gene is a rare cause for intrauterine and postnatal growth disorders. Patients identified with IGF1R mutations present with either normal or impaired glucose tolerance. None of the cases described so far showed hypoglycemia. We aimed to identify the genetic basis for small for gestational age, short stature and hypoglycemia over thre...