1/26. trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet.- - - - - - - - - - ranking = 1keywords = anencephaly (Clic here for more details about this article) |
2/26. Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.- - - - - - - - - - ranking = 0.16666666666667keywords = anencephaly (Clic here for more details about this article) |
3/26. Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.We report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly -- namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated "atelencephaly." Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome." Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.- - - - - - - - - - ranking = 52.501740105506keywords = aprosencephaly (Clic here for more details about this article) |
4/26. Early ultrasound diagnosis of Neu-Laxova syndrome.We report the mid-trimester prenatal diagnosis of Neu-Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS.- - - - - - - - - - ranking = 0.16666666666667keywords = anencephaly (Clic here for more details about this article) |
5/26. First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly-hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. genetic counseling is recommended.- - - - - - - - - - ranking = 1.3333333333333keywords = anencephaly (Clic here for more details about this article) |
6/26. A patient with hydranencephaly and PEHO-like dysmorphic features.Progressive encephalopathy with edema, Hypsarrhythmia, and optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.- - - - - - - - - - ranking = 0.66666666666667keywords = anencephaly (Clic here for more details about this article) |
7/26. Hypoplastic thumbs and hydranencephaly: a new syndrome?We report a fetus with hypoplastic thumbs and hydranencephaly. The features did not fit well into any syndrome described in the london dysmorphology database, and we suspect this may represent a previously undescribed syndrome, although a diagnosis of XK-aprosencephaly syndrome remains possible.- - - - - - - - - - ranking = 4.8719287260645keywords = aprosencephaly, anencephaly (Clic here for more details about this article) |
8/26. Meckel Gruber syndrome: a case diagnosed in utero.A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a previous malformed stillborn with anencephaly, meningomyelocele, polydactyly and ambiguous genitalia. This was the first prenatally diagnosed case ever reported in turkey. The clinical, computed tomography and postmortem findings and the related literature are reviewed.- - - - - - - - - - ranking = 0.16666666666667keywords = anencephaly (Clic here for more details about this article) |
9/26. A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.- - - - - - - - - - ranking = 0.83333333333333keywords = anencephaly (Clic here for more details about this article) |
10/26. prenatal diagnosis of pentalogy of cantrell in three cases, two with craniorachischisis.In this report, we describe 3 cases of pentalogy of cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association of the pentalogy of cantrell with exencephaly is rare, and to our knowledge, the association of this syndrome with craniorachischisis has not been reported previously. In addition, 2 of our cases had clubfoot, and 1 of them also had clubhand, neither of which has been reported previously in association with the pentalogy of cantrell. Finally, polyhydramnios, which occurred in 2 of our cases, has been reported to occur in association with that syndrome in only 1 previous case. We believe that sonographers should be aware that these anomalies may occur simultaneously with the classic anomalies of the pentalogy of cantrell.- - - - - - - - - - ranking = 0.16666666666667keywords = anencephaly (Clic here for more details about this article) |
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