دورية أكاديمية
[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].
| العنوان: | [Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review]. |
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| عنوان ترانسليتريتد: | Syndrome de Pallister-Killian : confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature. |
| المؤلفون: | Desseauve D; Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France. Electronic address: david.desseauve@univ-poitiers.fr., Legendre M; Service de génétique clinique, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France., Dugué-Maréchaud M; Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France., Vequeau-Goua V; Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France., Pierre F; Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France. |
| المصدر: | Gynecologie, obstetrique & fertilite [Gynecol Obstet Fertil] 2016 Apr; Vol. 44 (4), pp. 200-6. Date of Electronic Publication: 2016 Mar 28. |
| نوع المنشور: | Case Reports; Journal Article; Multicenter Study; Review |
| اللغة: | French |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: France NLM ID: 100936305 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-6682 (Electronic) Linking ISSN: 12979589 NLM ISO Abbreviation: Gynecol Obstet Fertil Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Paris : Elsevier, c2000- |
| مواضيع طبية MeSH: | Prenatal Diagnosis*, Chromosome Disorders/*diagnosis, Abnormalities, Multiple/diagnosis ; Chromosome Disorders/genetics ; Chromosomes, Human, Pair 12/genetics ; Craniofacial Abnormalities/diagnosis ; Female ; France ; Hernia, Diaphragmatic/diagnosis ; Humans ; Limb Deformities, Congenital/diagnosis ; Pregnancy ; Retrospective Studies ; Ultrasonography, Prenatal |
| مستخلص: | Objective: In multidisciplinary prenatal diagnosis centers, the search for a tetrasomy 12p mosaic is requested following the discovery of a diaphragmatic hernia in the antenatal period. Thus, the series of Pallister Killian syndromes (PKS: OMIM 601803) probably overestimate the prevalence of diaphragmatic hernia in this syndrome to the detriment of other morphological abnormalities. Methods: A multicenter retrospective study was conducted with search for assistance from members of the French society for Fetal Pathology. For each identified case, we collected all antenatal and postnatal data. Antenatal data were compared with data from the clinicopathological examination to assess the adequacy of sonographic signs of PKS. A review of the literature on antenatal morphological anomalies in case of PKS completed the study. Results: Ten cases were referred to us: 7 had cytogenetic confirmation and 6 had ultrasound screening. In the prenatal as well as post mortem period, the most common sign is facial dysmorphism (5 cases/6). A malformation of limbs is reported in half of the cases (3 out of 6). Ultrasound examination detected craniofacial dysmorphism in 5 cases out of 6. We found 1 case of left diaphragmatic hernia. Our results are in agreement with the malformation spectrum described in the literature. Conclusion: Some malformation associations could evoke a SPK without classical diaphragmatic hernia. (Copyright © 2016 Elsevier Masson SAS. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Antenatal; Anténatal; Diagnosis; Diagnostic; Foetopathology; Fœtopathologie; Pallister-Killian |
| SCR Disease Name: | Pallister Killian syndrome |
| تواريخ الأحداث: | Date Created: 20160402 Date Completed: 20170126 Latest Revision: 20170126 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1016/j.gyobfe.2016.03.002 |
| PMID: | 27032761 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1769-6682 |
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| DOI: | 10.1016/j.gyobfe.2016.03.002 |