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Autosomal Recessive Syndrome (autosomal + recessive_syndrome)
Selected AbstractsSeckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?JOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 10 2006P. J. De Coster Seckel syndrome (SCKL) [OMIM Entry 210600] is a rare, autosomal recessive syndrome, characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird-headed). Associated findings may include limb anomalies, dislocation of femoral heads, scoliosis, and gastrointestinal malformation. A 14-year-old boy is presented with brain hypoplasia, pachygyria, hydrocephaly, enamel hypoplasia and root dysplasia in the temporary dentition, and oligodontia, severe microdontia, and delayed eruption of the permanent dentition. The association of SCKL with the above unusual dental findings may represent a new phenotype. [source] Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infectionsPEDIATRIC DIABETES, Issue 3pt1 2008Doris Taha Abstract:, Pancreatic agenesis is a rare cause of neonatal diabetes mellitus (NDM). It can be associated with malformations of the heart, the biliary tract, and the cerebellum. We report an infant with NDM because of pancreatic agenesis, intra-uterine growth retardation, dysmorphic features, and recurrent bacterial infections. He was born to healthy consanguineous parents. With adequate replacement of insulin and pancreatic enzymes, his blood glucose levels were controlled and his weight slowly increased. However, he continued to develop recurrent serious bacterial infections and died at the age of 11 months with sepsis and respiratory failure. Analysis of the PTF1A and PDX1 genes, which have been associated with congenital agenesis of the pancreas, did not reveal any mutation. Genetic abnormalities of chromosome 6 associated with transient neonatal diabetes as well as mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic potassium channel were also excluded as a cause of the NDM in this patient. The association of permanent neonatal diabetes because of pancreatic agenesis, dysmorphism, and non-specific immunodeficiency is previously undescribed and may represent a new possibly autosomal recessive syndrome. [source] Prenatal diagnosis of a Turkish Bartsocas,Papas syndrome case with upper limb pterigiaPRENATAL DIAGNOSIS, Issue 6 2007Gülay Ceylaner Abstract Objectives Bartsocas,Papas syndrome is a severe, autosomal recessive syndrome. The major findings are severe popliteal webbing, ankyloblepharon, syndactyly, orofacial clefts, filiform bands, hypoplastic nose and ectodermal anomalies. We report a Turkish family with three affected pregnancies and a fetus prenatally diagnosed and terminated in pregnancy. Methods Obstetric ultrasound, amniocentesis and postmortem evaluation were done. Results Obstetric ultrasound presented lower limb malformations and facial findings. Postmortem fetal evaluation showed severe lower limb findings, less severe upper limb involvement and classical facial features of the syndrome. Conclusion Upper limb pterygia is an unusual finding and reported in just two patients who were classified as having multiple pterygium syndrome, Aslan Type (605203) in the OMIM catalogue. We thought, as did many other authors, that those cases were consistent with Bartsocas-Papas syndrome and upper limb involvement less severe than lower limb findings as rare findings of this syndrome. Copyright © 2007 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of Juberg,Hayward syndromePRENATAL DIAGNOSIS, Issue 2 2005Stéphanie Couvreur-Lionnais Abstract Juberg,Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg,Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg,Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd. [source] ABCD syndrome is caused by a homozygous mutation in the EDNRB geneAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2002Joke B.G.M. Verheij Abstract ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome. © 2002 Wiley-Liss, Inc. [source] Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly or heterotaxiaBIRTH DEFECTS RESEARCH, Issue 3 2003Maria Cristina Digilio BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2,3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated. METHODS We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes. RESULTS Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis. CONCLUSIONS The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. Birth Defects Research (Part A) 67149,153, 2003. © 2003 Wiley-Liss, Inc. [source] | |||||||||||||