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At least 199 records · Page 11Linked to original sources
PubMed1995

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

Five children are described with a striking, asymmetric facial appearance, craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum and unusual skin with streaky areas of atrophy. The gut and mucous membranes are involved in two patients. This paper includes two patients described by Gorlin (1990) under the designation of the Curry Jones syndrome.

Abnormalities, Multiple↗
PubMed1998

[Does maternal obesity increase the risk of fetal abnormalities? Analysis of 20,248 newborn infants of the Mainz Birth Register for detecting congenital abnormalities].

AIM: To investigate the risk of congenital malformations for newborn of obese women (BMI > or = 30) compared with women of average prepregnancy weight. METHODS: We performed a prospective, population-based case-control study of 20,248 newborn born in the city of Mainz. A total of 1,451 infants (cases) with and 8,088 without congenital malformations (controls) were analysed. The relative risks of associations between obesity and malformations were calculated as odds ratios (OR) with 95% confidence intervals (CI). RESULTS: The prevalence of malformations in children of obese mothers is 11.1% and thus approximately 4% higher than those of the total study population. There is a significant odds ratio for major malformations (OR 1.3; KI 1.0-1.7). Statistically significant associations were calculated for malformations of the internal urogenital system (OR 1.7; 1.1-2.8), the eyes (OR 5.0; 1.3-20.0) and for orofacial clefts (OR 1.7; 1.1-2.8). Among the specific malformations the highest associations occurred for encephalocele (OR 7.3; 1.1-50.6), common truncus arteriosus (OR 6.3; 1.6-24.8) and Potter sequence (OR 6.3; 1.6-24.8). Adjustment for confounding factors (e.g. maternal diabetes mellitus and age) did not change the odds ratios. CONCLUSIONS: Our data demonstrate that newborn of obese mothers are at an increased risk for malformations. An adequate prenatal examination of these pregnancies should include ultrasound screening by specially trained ultrasonographers in tertiary units (DEGUM II/DEGUM III) and serum alpha-fetoprotein measurements. Public health campaigns for prevention are advised.

Body Mass Index↗
PubMed1990

[Abnormalities of the optic papilla in (peri)orbital encephaloceles--a contribution to the common pathogenesis of these abnormalities].

Eleven patients (6 female, 5 male) with unilateral (6) or bilateral (5) (peri)orbital encephaloceles (nasofrontal in 4 cases, naso-orbital in 3, spheno-orbital in 4), were ophthalmologically examined. All had normal anterior segments, but ipsilateral or bilateral anomalies of the optic nerve head such as coloboma, pits, morning glory syndrome, dysplasia, tilted disk syndrome, hypoplasia, or a persistent hyaloid artery. In regard to the pathogenesis of (peri)orbital encephaloceles associated with optic disk malformations a common clefting defect in the neuroectodermal and neurocristal midline structures of the head is postulated, taking place in the fourth to sixth week of development.

Abnormalities, Multiple↗
PubMed1986

Abnormal antepartum cardiotocography and major fetal abnormalities.

A 10-year experience of antepartum cardiotocography (8,463 pregnancies) was reviewed to examine the associations with major fetal malformations (278 cases or 3.3%). Patients with critical fetal reserve cardiotocography had a 72% Caesarean section rate (91 of 126) and major fetal malformations were present in 19% (24 of 126) of their infants. Although only 10 of the total 278 malformations (3.6%) were lethal, 6 of these 10 (60%) were associated with a critical reserve antepartum cardiotocographic pattern. As delivery by Caesarean section is usual in patients with critical fetal reserve cardiotocography, it is mandatory to perform ultrasonography to exclude identifiable lethal fetal malformations before delivery.

Cesarean Section↗