Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Aproveitamento de alimentos de origem animal pela tartaruga-da-amazônia: Podocnemis expansa criada em cativeiro

Foi realizado um trabalho para determinar o aproveitamento alimentar da farinha de carne e ossos (FCO), farinha de vísceras de aves (FVA) e farinha de peixe (FP) em tartaruga-da-amazônia, por meio dos coeficientes de digestibilidade aparente (CDA) da matéria seca (MS), proteína bruta (PB), extrato etéreo (EE) e energia bruta (EB). Os animais experimentais foram 136 filhotes provenientes do Projeto Quelônios da Amazônia, no estado do Mato Grosso, mantidos em caixas com renovação de água e temperatura média de 29ºC. Os CDA foram determinados com dietas contendo 0,1% do marcador óxido de crômio III (Cr2O3). Os CDA da MS, PB, EE e EB foram, respectivamente, de 79,10; 87,61; 93,83 e 79,61% para FCO; 92,45; 94,89; 96,55 e 92,71% para FV e 93,53; 95,13; 94,05 e 93,18% para FP. Os melhores coeficientes foram obtidos com a farinha de peixe e a farinha de vísceras de aves.

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

Fontes e disponibilidade de cálcio e fósforo para a tartaruga-da-amazônia - Podocnemis expansa criada em cativeiro

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Crescimento e digestibilidade de dietas com diferentes teores de fibra para a tartaruga-da-Amazônia - Podocnemis expansa

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)