Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Digestive System Abnormalities”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 397 records · Page 22Linked to original sources
PubMed1995

Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.

We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed2002

Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries.

OBJECTIVES: We evaluated the prenatal detection of gastrointestinal obstruction (GIO, including atresia, stenosis, absence or fistula) by routine ultrasonographic examination in an unselected population all over Europe. METHODS: Data from 18 congenital malformation registries in 11 European countries were analysed. These multisource registries used the same methodology. All fetuses/neonates with GIO confirmed within 1 week after birth who had prenatal sonography and were born during the study period (1 July 1996 to 31 December 1998) were included. RESULTS: There were 670 793 births in the area covered and 349 fetuses/neonates had GIO. The prenatal detection rate of GIO was 34%; of these 40% were detected < or = 24 weeks of gestation (WG). A total of 31% (60/192) of the isolated GIO were detected prenatally, as were 38% (59/157) of the associated GIO (p=0.26). The detection rate was 25% for esophageal obstruction (31/122), 52% for duodenal obstruction (33/64), 40% for small intestine obstruction (27/68) and 29% for large intestine obstruction (28/95) (p=0.002). The detection rate was higher in countries with a policy of routine obstetric ultrasound. Fifteen percent of pregnancies were terminated (51/349). Eleven of these had chromosomal anomalies, 31 multiple malformations, eight non-chromosomal recognized syndromes, and one isolated GIO. The participating registries reflect the various national policies for termination of pregnancy (TOP), but TOPs after 24 WG (11/51) do not appear to be performed more frequently in countries with a liberal TOP policy. CONCLUSION: This European study shows that the detection rate of GIO depends on the screening policy and on the sonographic detectability of GIO subgroups.

Adult↗
PubMed1984

The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.

An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.

Abnormalities, Multiple↗
PubMed2005

A neonate with anorectal malformation with rare limb defects report of a case.

A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of 'axial mesodermal dysplasia' in our patient, rather than 'caudal regression syndrome', as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.

Abnormalities, Multiple↗
PubMed2006

Biliary atresia associated with multiple unrelated anomalies: what about it?

The prognosis of extrahepatic biliary atresia (EHBA) and multiple apparently not linked anomalies has never been disclosed. We reported a rare case affected by biliary, anorectal and esophageal atresia, and collected the uncommon associations of EHBA with multiple unrelated congenital defects to make known the prognosis. An elevated rate of hepatic failure despite surgery and an early poor outcome were found in the above-mentioned associations. A liver transplantation at the first months of life could be considered to improve outcome.

Abnormalities, Multiple↗
PubMed2003

A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder.

The authors report a case of a surviving infant with sirenomelia (Mermaid syndrome). The child is now 4 years of age. The authors believe that this is only the fourth reported case of an infant with sirenomelia surviving beyond the neonatal period and the first associated with absent bladder. The abnormal distal aorta shown in this case supports the theory that sirenomelia is an extreme form of caudal dysgenesis rather than occurring secondary to vascular steal.

Abnormalities, Multiple↗
PubMed1999

Persistent cloaca: are we ready for a correct prenatal diagnosis?

Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.

Abnormalities, Multiple↗
PubMed1975

Congenital diaphragmatic hernia (Bochdaleck) with special reference to the prognostic influence of congenital cardiac and gastro-intestinal anomalies.

Of 29 patients with hernia Bochdaleck there were 11 in the non surgical group and 18 in the surgical group. 14 were operated in the first 24 hours of life, and 4 patients after that time. No patients in the non-surgical group survived. In patients who were operated upon in the first 24 hours of life, 5 survived, and after that time 3. In all cases the transthoracic approach was used. The investigation did not permit any safe judgement of the preoperative treatment. On these conditions multiple anomalies combined with prematurity and intrauterine asphyxia had some influence on, whether a patient lived so long, that an operation could take place. Gastro-intestinal anomalies had a certain prognostic significance in the postoperative period. In cured patients the severity of a complicating cardiac failure could be of some importance.

Abnormalities, Multiple↗
PubMed1977

alpha-Fetoprotein levels in pregnancies complicated by gastrointestinal abnormalities of the fetus.

alpha-Fetoprotein (AFP) levels have been measured in maternal serum and amniotic fluid in a variety of gastrointestinal abnormalities of the fetus. Maternal serum AFP levels were consistently elevated in abdominal wall defects of the fetus after 15 weeks gestation and the amniotic fluid levels were raised in 3 of the 4 patients measured. In atresia of the gastrointestinal tract and diaphragmatic hernia, serum AFP levels were usually normal unless there was an associated neural tube defect or multiple pregnancy, although the majority were not measured between 15 and 26 weeks gestation. If elevated amniotic fluid levels of AFP are used in the decision to terminate pregnancy on the assumption of a probable neural tube defect of the fetus, a proportion of terminations will be performed because of abdominal wall defects of the fetus.

Abdominal Muscles↗
PubMed1991

Congenital structural abnormalities in biliary atresia: evidence for etiopathogenic heterogeneity and therapeutic implications.

The clinical, surgical, laboratory and histological data of 237 children with extrahepatic biliary atresia were reviewed. Forty-seven patients (20%) had associated congenital anomalies, and of these, 28 had cardiovascular, 22 digestive and 19 splenic malformations. Of the 19 patients with splenic malformations, 13 showed the polysplenia syndrome and two had asplenia. Chromosome studies were performed in eight children, six having associated anomalies, and two of them showed karyotype abnormalities (46,XX,del 18 p- and 49,XXXXY). These observations indicated that biliary atresia could be subdivided into four distinct etiopathogenic subgroups, three involving a congenital form that could arise through a malformation, a disruption or a chromosome abnormality, and the remaining to agents active in the perinatal period (the acquired form). The surgical outcome in 171 patients operated on by an experienced surgeon was not influenced by the presence of anomalies but by the timing of surgery. Seventy-one percent of 24 patients operated on by 8 weeks of age were jaundice-free as opposed to only 34% of those who had later surgery (p less than 0.01).

Abnormalities, Multiple↗
PubMed2006

The cardiofaciocutaneous syndrome.

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain-of-function mutations in four different genes BRAF, KRAS, mitogen-activated protein/extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS-extracellular signal-regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.

Abnormalities, Multiple↗
PubMed1986

Possible Waardenburg syndrome with gastrointestinal anomalies.

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.

Abnormalities, Multiple↗
PubMed1997

A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-obstruction are discussed. The two most likely aetiological mechanisms are an X linked single gene disorder or a mitochondrial disorder. The evidence for these possibilities is presented.

Abnormalities, Multiple↗