Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complete or mosaic trisomy for all of chromosome 1q has been seen rarely in a recognized pregnancy. A patient presented with twins following in vitro fertilization (IVF). Ultrasound showed twin A to have a diaphragmatic hernia, thick nuchal fold, and subtle intracranial abnormalities. Twin B appeared normal and a thick dividing membrane was seen. Amniocentesis of twin A showed a male karyotype with mosaic trisomy 1q in 57% of cells resulting from a translocation between chromosomes Yq12 and 1q12. Parental karyotypes were normal. The twins were delivered at 33 weeks. Twin A died at 1 hr of life. Autopsy confirmed the left diaphragmatic hernia and hypoplastic lungs. Autopsy also revealed a partial cleft palate, syndactyly of the second and third toes bilaterally, external deviation of the left 5th toe, and contractures of the index fingers bilaterally. A recent report documented formation of a chimera resulting from embryo amalgamation after IVF. Given the rarity of the cytogenetic findings in our case, we sought to determine if the mosaicism was a result of chimera formation related to the IVF. Thirteen polymorphic loci throughout the genome, in addition to four on 1q and four on 1p, were amplified by PCR. Only two alleles were observed at each of these loci in twin A, one paternal and the other maternal. We present further clinical findings of this case with a rare cytogenetic abnormality that appears to have originated from a postzygotic mitotic error and not embryo amalgamation.
 ...
PMID:Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. 1288 23

Mathieu et al., (1993) reported a family in which a male adult and his son were both affected by unusual facies, cleft palate, congenital brevicollis, diaphragmatic hernia, gastro-oesophageal reflux, and cervical vertebral fusion. Since then, to our knowledge, no other similar cases have been reported. Here we describe a girl presenting with facial features similar to the Mathieu's patients. The association of cervical vertebral fusion, diaphragmatic hernia, and severe gastro-oesophageal reflux seems to confirm this syndrome.
 ...
PMID:Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome. 1456 64

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.
 ...
PMID:Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. 1538 75

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.
 ...
PMID:49, XXXXY syndrome. 1550 79

Neonates with 18-trisomy syndrome have various anomalies including cardiac and facial anomalies. Active treatments for them have not been recommended due to a low survival over one year which is less than 10%. However, the survival over one year in our institute between 1985 and 2003 is higher at 22%, and we had a patient with survival of over 5 years. We report a case of anesthetic management in a male 18-trisomy neonate who received a radical repair of umbilical hernia immediately after his birth. Tracheal intubation was difficult due to small airway and facial anomalies; cleft clip, cleft palate, and macrognathia. Conventional ventilation was ineffective for elimination of carbon dioxide and oxygenation due to pulmonary hypoplasia and intra- and extra-cardiac shunts. A high frequency ventilation improved elimination of carbon dioxide and oxygenation.
 ...
PMID:[Anesthetic management of an 18-trisomy neonate with high frequency ventilation]. 1579 9

In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been done in the country up until 1999. Various attempts have been made by different study groups to gather data but there was never a formal effort to consolidate the information and establish a centralized registry. Data from various modes of ascertainment are hereby presented: 1) Philippine Birth Defects Registry Project, 2) Hospital In-Patient and Out-Patient Registries, 3) Prenatal Inventory and Neonatal Outcome Study Group, 4) Hospital Pathology Reports, and 5) Community Outreach Programs. Birth Defects Registry Project had the largest reporting of the different methods presented here. The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (ankyloglossia), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, polydactyly, syndactyly, and cleft lip.
 ...
PMID:Birth defects ascertainment in the Philippines. 1590 45

We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.
 ...
PMID:Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. 1661 85

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele.
 ...
PMID:Parental age as a risk factor for isolated congenital malformations in a Polish population. 1933 37

A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, digital anomalies, and dysmorphic facial features. Pulmonary hypoplasia resulted in death at day 2 of life. She was presumed to have Fryns syndrome based on diagnostic criteria established for this recessive disorder with prominent features including CDH, facial anomalies, and nail hypoplasia. In retrospect, this infant's findings are more likely the result of teratogenic exposure to MMF, as more recent data have emerged linking aural atresia, digital anomalies, and dysmorphic features to this drug. To date, this is the only human report of CDH in an infant with prenatal exposure to MMF, although the manufacturer's package insert alludes to animal studies with a broad spectrum of malformations, including CDH. Thus, a teratogenic exposure can mimic a known Mendelian genetic syndrome, and caution is urged in presuming a genetic etiology for infants with potential teratogenic exposure to relatively new drugs with limited published animal data.
 ...
PMID:Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? 1944 4

We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by a TGFBR2 mutation.
 ...
PMID:A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. 1987 93


<< Previous 1 2 3 4 5 6 7 8 Next >>