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A letter to the editor is presented in response to the article "Hereditary haemorrhagic telangiectasia: a clinical and scientific review," Claire L Shovlin and Fatima S Govani in the 2009 issue is presented.

Introduction: 45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies., Materials and Methods: We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences., Conclusion: Our case, with an uncommon association of congenital anomalies, stresses the difficulty of prenatal counselling regarding 45,X/46,XY mosaicism and discuss the possible role of sex chromosome genes that may be involved in the pathogenesis of both types of midline defect.

Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.

Our study does not support the reported association between APOE and recurrent pregnancy loss (RPL) than the clinical management of these patients should not be influenced by the presence or not of APO E polymorphisms., (Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated. We performed an evaluation of birth weight in our 260 HPA patients. Our results do not support the view that birth weight is reduced in HPA patients and we found no correlation between birth weight and severity of the disease. Only a better knowledge of genetic mechanisms involved in HPA can clarify the interaction between HPA and fetal development.