Background and Objectives: Roberts syndrome (pseudothalidomide) is a rare developmental disorder characterized by multiple malformations, in particular symmetrical limb reduction (phocomelia), craniofacial anomalies such as bilateral cleft lip and cleft palate, and is a genetic disorder.The aim of presenting this case is that couples with a personal family history of a heritable genetic disorders should be offered for genetic counseling and should be provided with a calculated risk of having an affected fetus.Case report: The case of the present study was a 38 year old pregnant woman, at 38w gestational age, who referred with labor pain to Akbar Abadi hospital, in October 2008. Due to having history of three cesarean sections in the past, emergency surgery was performed. The female newborn had multiple craniofacial anomalies and phocomelia in righ upper limb.Conclusion: Selective screening for prenatal care should be offered based on maternal age, family history, or the ethnic or racial background of the couple. With prenatal diagnosis, it is the clinicians' decision to alter the severity of congenital diseases by offering expanding number of fetal treatments or surveillance as well as optimal delivery for some or consideration of termination of pregnancy for others.

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life.Methods: At present study, we have analyzed the segregation of eight microsatellite markers from the ARPKD interval in one family with the severe phenotype.Results: Our data confirm linkage and refine the ARPKD region to a 3.8-cM interval, delimited by the markers D6S269, D6S465, D6S427, D6S436, D6S272, D6S466, D6S295 and D6S1714 and most common mutation, T36M. Taken together, these results suggest that, despite the wide variability in clinical phenotypes, there is a single ARPKD gene.Conclusion: These linkage data and the absence of genetic heterogeneity in this family tested to date have important implications for DNA based prenatal diagnosis as well as for the isolation of the ARPKD gene.

Background: Autosomal recessive polycystic kidney disease (ARPKD) is a heterogeneous inherited disorder most commonly seen in childhood. The presentation is usually a palpable large mass in the flank or abdomen appearing at infancy or birth, leading to electrolyte abnormalities, pulmonary hypoplasia, oligohydramnious and the Potter’s syndrome. The survival rate of this disease is 70%. Multiple mutations of the polycystic kidney and hepatic disease 1 (PKHD1) are known that can cause ARPKD. On the other hand, mutations inPKHD1 have also been identified in about 30% of children with congenital hepatic fibrosis (the Caroli’s syndrome) without any evidence of kidney involvement. Based on this evidence, not everyone withPKHD1 mutations will present with ARPKD. Recent studies have shown that nongenetic factors, including environmental exposures had a significant effect on manifestations of ARPKD. The present study aimed at investigating the possible link between ARPKD and its epidemiologic factors, hypothesizing that these epidemiologic conditions would influence the incidence of ARPKD.Objectives: The present study aimed at evaluating a possible link between the ARPKD and its epidemiologic factors.Methods: In this case-control study, children with ARPKD referred to Amirkabir hospital in Arak city, Iran, were compared with noninfected children. Examinations, interviews, and questionnaires were performed to collect data and the disease was diagnosed by a physician.Results: The results of this study showed no significant relationship between epidemiological factors such as age, place of residence for families, sex, family education/occupation/ income, body mass index, stunted growth, slow growth, good growth, milk intake, water intake, failure to thrive and ARPKD.Conclusions: Based on our findings, epidemiological factors did not have a significant effect on the occurrence of ARPKD.

Background: Autosomal recessive polycystic kidney disease is characterized by renal collecting duct cysts, congenital hepatic fibrosis (biliary dysgenesis) and autosomal recessive pattern of inheritance.The disease usually manifests in infancy, and has a high mortality rate in the first year of life. Kidney involvement is always present and manifests as variable degrees of non-obstructive collecting duct ectasia, usually in bilateral and symmetrical fashion and interstitial fibrosis. Patients almost always have also hepatic involvement as congenital hepatic fibrosis (periportal fibrosis with anomaly and dilatation in intrahepatic biliary ducts) that can cause portal hypertension with esophageal varices, bleeding and hypersplenism. The relative degrees of kidney and liver involvement tend to be inverse: Children with severe renal disease usually have milder hepatic disease and vice versa. Case report: This paper presents a 23-month old female with progressive renal failure and hepatic involvement (portal hypertension, esophageal varices bleeding and hypersplenism), which has been reported rarely.

Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their family history was studied and a large pedigree was drawn up. Based on the fmdings in their pedigree pattern, in addition to clinical and pathological studies, one can say that cutis laxa in this family is autosomal recessive. Wealso showed obligate carrier members in the family. Recent studies have shown that cutis laxa is a heterogeneous group of conditions both clinically and genetically.Autosomal dominant, autosomal recessive,X-linked and also acquired forms have been reported. Our study indicates that our case is an autosomal recessive type I.We discussed the pedigree that covers five generations.