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PubMed2006

Yunis Varon syndrome.

In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.

Abnormalities, Multiple↗
PubMedDate not supplied

A case with Weaver syndrome operated for congenital cardiac defect.

An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.

Abnormalities, Multiple↗
PubMed1998

Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist.

Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf.

Abnormalities, Multiple↗
PubMed2005

Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases.

Children with CHARGE syndrome commonly experience feeding and swallowing problems. Difficulties may be associated with congenital structural anomalies, motor impairment, and/or oral sensory impairment. For many children with CHARGE syndrome, the introduction of functional oral feeding is delayed and there are often long-term feeding complications. Oral aversion or defensiveness is a frequent serious issue; however, it is uncertain whether this is a primary sensory disorder or secondary to delayed and/or negative oral sensory and feeding experiences. This article examines in detail the early oral sensory and feeding experiences of five children with CHARGE syndrome, through a review of medical records and caregiver questionnaires. Findings indicate variable early oral sensory experiences in this group of children, with all of the children having some difficulty or delay in the development of oral feeding and swallowing. The nature of these difficulties and the potential contributory factors are discussed.

Abnormalities, Multiple↗
PubMed2006

Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Cranioectodermal dysplasia (CED) is a rare autosomal recessive disease with characteristic craniofacial, skeletal, and ectodermal-derived tissue abnormalities. In this disease, tubulointerstitial nephropathy (TIN) has been reported as one of the life-threatening combinations. Here we report a sporadic case of CED showing signs of renal failure during the perinatal period. Renal biopsy at the age of 6 months revealed TIN consisting of marked interstitial fibrosis with inflammatory cell infiltration accompanied by scattered tubular atrophy. Glomeruli were often sclerosed and others showed prominent immaturity; the findings are supportive of progressive deterioration of renal function in this infant. This case suggests that TIN in CED can occur during the fetal period and progress rapidly, leading to end-stage renal failure in infancy.

Abnormalities, Multiple↗
PubMed1983

The nature of structural defects associated with velamentous and marginal insertion of the umbilical cord.

Previous studies have documented an increased incidence of structural defects in association with velamentous and marginal insertion of the umbilical cord. Evaluation of 4,677 consecutive placentas at the University of California (San Diego) Medical Center revealed 454 marginal insertions and 72 velamentous insertions. An increased incidence of structural defects was found only in association with a velamentous cord insertion. Delineation of the structural defects according to their developmental pathogenesis revealed that the majority were due to deformation of a normally formed part. These data and the finding of a disproportionate number of twins with a velamentous insertion suggest that competition for space at the implantation site leads to both the velamentous insertion of the cord and the associated structural defects.

Abnormalities, Multiple↗
PubMed1993

Prognostic value of p53 overexpression and c-Ki-ras gene mutations in colorectal cancer.

BACKGROUND: Mutations in Ki-ras codon 12 and the p53 gene are common abnormalities in colorectal cancer. The occurrence of p53 overexpression and/or Ki-ras codon 12 mutations were analyzed in 100 colorectal adenomas to determine if they were related to patient survival. METHODS: p53 overexpression was identified by immunohistochemistry, and Ki-ras codon 12 mutations were detected using the polymerase chain reaction and a restriction enzyme digestion method. RESULTS: p53 overexpression was identified in 45% of tumors, with a higher frequency identified in DNA aneuploid and left-sided tumors than in DNA diploid and right-sided tumors. Mutations in Ki-ras codon 12 were identified in 24% of carcinomas. Individually, mutations in Ki-ras codon 12 or p53 overexpression were not prognostic indicators of survival. However, a statistically significant difference in survival was identified when these two oncogenic abnormalities were analyzed together. The median survival of patients whose tumors contained both oncogenic abnormalities was less than half of that of patients with either alteration alone or without either abnormality. CONCLUSIONS: Screening for multiple genetic abnormalities in colorectal cancers excised at surgery may prove to be a useful tool in determining prognosis.

Adenocarcinoma↗
PubMed1992

Prevalence of minor congenital anomalies in newborns of diabetic mothers.

Minor congenital anomalies (MCA) were assessed in the offspring of 802 gestational diabetic mothers, 117 pre-gestational diabetic mothers, and 380 offspring born to normal mothers. The prevalence of infants with MCA ranged between 19.4% and 20.5% in the three groups without any significant difference between them. There was no correlation between the prevalence and type of MCA and the severity of the diabetic state. Neither was there any correlation between the prevalence or type of MCA and the appearance or type of major congenital anomalies.

Abnormalities, Multiple↗
PubMed1982

The abnormal fetus.

Explore the source record for details and available documents.

Abdominal Muscles↗
PubMed1980

Sonolucencies in fetal and infant abdomen: implications for management.

The increased use of prenatal and antenatal ultrasonography will detect predictably abnormalities of fetal and infant anatomy not assessed or suspected previously. Three cases are presented illustrating similar ultrasonographic findings with different diagnoses and prognoses, and comparisons are made with other cases reported in the literature. Caution should be used in interpreting sonolucencies in fetal and infant abdomen to be diagnostic of a particular defect since further studies are required to define properly the specific abnormality so that proper treatment can be instituted.

Abnormalities, Multiple↗
PubMed1991

Clonal chromosomal abnormalities in hemangiopericytoma.

We report the cytogenetic findings in nine hemangiopericytomas studied after short-term culture. Clonal chromosome abnormalities were present in four cases. One case had a simple translocation (12;19)(q13;q13.3) as the sole abnormality whereas complex and multiple chromosomal abnormalities involving almost all chromosomes in the complement characterized tumors from the three other cases.

Chromosome Aberrations↗
PubMedDate not supplied

Double pituitary glands with partial duplication of facial and fore brain structures with hydrocephalus.

A female term infant was born with multiple bony and facial abnormalities involving the mandible, palate, tongue, nasopharynx, vertebrae, ribs and brain. Death occurred at 1 week and a rare combination of forebrain anomalies, were found in a big head, with complete agenesis of the corpus callosum with duplication of the infundibulum, pituitary, anterior third ventricle and aqueduct. The CAT scan was diagnostic of agenesis of corpus callosum. Incomplete twinning or incompetent neural induction with genetic and epigenetic factors have been suggested as possible mechanisms responsible for this rare malformation.

Abnormalities, Multiple↗
PubMed2006

Craniofacial cleft: a case of Tessier no. 3, 7 and 11 cleft.

The incidence of the rare facial clefts is between 1.43 and 4.85 per 100.000 births. We report a case of right associated Tessier no. 3, 7 and 11 craniofacial clefts with cardiac malformation. The epidemiology, classification, embryology and pathogenesis of each craniofacial malformation are briefly reviewed. After an extensive review of the literature, we conclude that this association has not previously been reported.

Abnormalities, Multiple↗
PubMed2004

Skull deformities.

To recognize and make the proper diagnosis of a craniofacial abnormality, it is helpful for the pediatrician to understand the normal embryology, morphologic variations, and the characteristics, types, and timings of defects that can occur. It is important that pediatricians and other caregivers of infants and young children be able to recognize the common cranial abnormalities so that the families maybe properly counseled and referred to an appropriate multidisciplinary craniofacial center. Because the most common causes of distortion or asymmetry are craniosynostosis or deformation, these abnormalities are the primary subjects of this article.

Abnormalities, Multiple↗
PubMed1991

Unilateral diplophthalmos.

In a child born of a full-term pregnancy, unilateral diplophthalmos without proboscis was observed along with other craniocervical abnormalities (ipsilateral temporoparietal porencephaly, supernumerary teeth, and cervical cyst). A globe almost normal in shape and size was observed within the left orbit. The upper quadrant of this globe was attached to a smaller, pear-shaped, supernumerary eye containing a small lens, normal vitreous humor, ciliary body structures, avascular retina, choroid, and a rudimentary optic disk. When a two-peaked and enlarging intraocular mass was observed clinically, the eye was enucleated because of suspected neoplasm. The enlarging prominence had been caused by the growing second globe. Our findings indicated that a single primary optic vesicle was formed (globe I with an optic fasciculus), and some unknown damage was caused when this single primary optic vesicle induced the lens formation by contacting the ectoderm. Although the conception and early embryonal life of this child had taken place during a period of increased radiation exposure caused by the explosion of the nuclear plant at Chernobyl, U.S.S.R., in the spring of 1986, it seemed unlikely that the abnormality could have been caused by radioactive fallout in the mountains of Austria.

Abnormalities, Multiple↗