Brazilian population derives from Native Amerindians, Europeans, and Africans. Southeastern Brazil is the most populous region of the country. The present study intended to characterize the maternal genetic ancestry of 290 individuals from southeastern (Brazil) population. Thus, we made the sequencing of the three hypervariable regions (HV1, HV2, and HV3) of the mitochondrial DNA (mtDNA). The statistical analyses were made using Arlequin software, and the median-joining haplotype networks were generated using Network software. The analysis of three hypervariable regios showed 230 (79.3 %) unique haplotypes and the most common haplotype was "263G" carried by 12 (4.1 %) individuals. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9966 ± 0.0010), and the probability of two random individuals showing identical mtDNA haplotypes were 0.0068. The analysis of haplogroup distribution revealed that 36.9 % (n = 107) presented Amerindian haplogroups, 35.2 % (n = 102) presented African haplogroups, 27.6 % (n = 80) presented European haplogroups, and one (0.3 %) individual presented East Asian haplogroup, evidencing that the southeastern population is extremely heterogeneous and the coexistence of matrilineal lineages with three different phylogeographic origins. The genetic diversity found in the mtDNA control region in the southeastern Brazilian population reinforces the importance of increased national database in order to be important and informative in forensic cases.

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation, "progeroid" face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult.

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