Doris Pinto-Escalante

A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance.

Most cases of KTW syndrome are sporadic. However, in a few, other family members have some clinical manifestations of the syndrome, and an autosomal dominant mode of inheritance has been suggested. In this paper we present a family with an affected child who has large skin hemangiomata, overgrowth of the right leg, and severe heart defects. Her mother has a large capillary hemangioma on the left side of back and has developed severe varicosities in both lower extremities. The maternal grandmother developed severe varicosities in her legs at a young age. The clinical signs found in the mother and maternal grandmother represent a milder phenotype and might be explained as variable expressivity of the syndrome. The family tree supports autosomal dominant inheritance.

Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico.

BACKGROUND Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP-related effects. METHODS The frequency of PON1 haplotypes and polymorphisms (-108CT, L55M, and Q192R) were determined in this study. A case-control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time-PCR. Odds ratios and confidence interval 95% were estimated. RESULTS Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy-Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of -108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for -108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous -108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate-specific polymorphism. CONCLUSION Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico.

Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance

We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has been reported previously in 6 cases, three of them being nonmosaic and three mosaic patients. There was a great variability of expression among the anomalies of these patients. However, the most common anomalies were in the face and joints. A correlation between the severity of expression and percent of monosomic cells was not clear.

Focal dermal hypoplasia without focal dermal hypoplasia

Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome) is an X‐linked dominant disorder affecting mainly tissues of ectodermal and mesodermal origin. The phenotype is characterized by hypoplastic linear skin lesions, eye malformations, hair and teeth anomalies, and multiple limbs malformations. The disorder is caused by PORCN mutations. Here we describe a mother and daughter with FDH in whom a c.938T>G in PORCN was detected. Neither of the two had FDH, but otherwise the phenotype was classical. Focal skin hypoplasia is a hallmark of FDH but the present family indicates that FDH should also be considered in absence of this skin manifestation.

Birth Defects Associated With Congenital Zika Virus Infection in Mexico

Part of the work agenda of international health authorities is to define the clinical spectrum of the congenital Zika syndrome (CZS) in different territories. We describe the clinical variability that gave rise to the suspicion of CZS in 3 newborn patients in the south of Mexico with active transmission of Zika. All of them presented Zika RNA by reverse transcription–polymerase chain reaction and positive antibodies for IgM by enzyme-linked immunosorbent assay. None of the mothers tested positive for active viremia, only one mother had Zika-symptoms and titers of Zika-positive IgM. Intrauterine growth restriction, brain disruption sequence, and intracranial calcifications are the clinical characteristics common in all. One patient had neural tube defect and other, arthrogryposis. Because the majority of pregnant women will be asymptomatic to Zika, we must be alert to the clinical variability of the birth defects associated to pregnancy Zika infection. Reports of clinical cases encourage the medical community to make diagnostic decisions.

Association of A80G Polymorphism in the RFC1 Gene with the Risk for Having Spina Bifida-Affected Offspring in Southeast Mexico and Interaction with C677T-MTHFR

Spina bifida (SB) is one of the most prevalent congenital anomalies known as neural tube defects (NTD) in Yucatan, at Southeast Mexico. NTD results from failures of normal neural tube closure between the third and fourth week of embryonic development (Chen, 2008; Ramirez-Espitia et al., 2003). The majority of NTD cases can be categorized as either anencephaly with a lack of closure in the region of the head; or spina bifida with a lack of closure below the head (Au et al., 2010). SB refers to defects in the vertebral arches that obligatorily accompany open lesions. When the neural folds remain open, the sclerotome is unable to cover the neuroepithelium and skeletogenesis occurs abnormally, leaving the midline exposed (Greene & Copp, 2009). SB encompasses several subgroups of defects including the protrusion of the nervous tissue and its covering through a defect in the vertebrae named myelomeningocele, meningocele, and lipomeningocele. Myelomeningocele is by far the most common, accounting for greater than 90% of SB cases (Au et al., 2010). Wide variations in SB prevalence based on geography, race/ethnicity, and socioeconomic level suggest that genetic and environmental factors contribute to its etiology (Chen, 2008). Maternal folate status is critical for proper neural tube closure during embryogenesis. However epidemiological studies suggest that factors other than maternal deficiency of folic acid are involved in the etiology of SB. Numerous environmental and genetic influences