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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report left diaphragmatic hernia as the first presenting echographic sign in a malformed male fetus with Apert syndrome. Molecular studies confirmed the presence of a mutation in the FGFR2 gene (Ser 252 Trp).
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PMID:Diaphragmatic hernia as the first echographic sign in Apert syndrome. 1082 Apr 9

Herniation of the cerebellar tonsils may occur in children with craniofacial dysostosis (e.g., Apert, Carpenter, Crouzon, Jackson-Weiss, Pfeiffer, and Saethre-Chotzen syndromes), occasionally, with serious sequelae. Cerebellar tonsillar herniation is probably acquired in children affected with craniofacial dysostosis, raising the question, How should we be screening for this anomaly? This retrospective clinical study was undertaken to review the authors' series of what they believe to be a new surgical treatment for craniofacial dysostosis-associated cerebellar tonsillar herniation and to report their experience with a new screening technique. In an attempt to find a low-cost alternative to the use of routine magnetic resonance imaging for identifying cerebellar tonsillar herniation, the authors instituted sagittal reformatting of three-dimensional computed tomographic scans through the foramen magnum. Scans are considered positive if soft tissue is noted to extend below the foramen magnum, and all positive scans are further evaluated by magnetic resonance imaging with flow studies of the cerebrospinal fluid. These sagittally reformatted scans add no additional cost, and they seem to be highly sensitive in screening for cerebellar tonsillar herniation. Over a 13-month period, five children (one with Apert syndrome; four with Crouzon syndrome) with craniofacial dysostosis-associated cerebellar tonsillar herniation underwent isolated anterior cranial vault remodeling to treat observed brachycephaly (standard neurosurgical posterior decompression was not performed). All patients (mean age, 6 years; range, 2 to 14 years) were without the symptoms typically associated with cerebellar tonsillar herniation. Only those patients who had preoperative and postoperative magnetic resonance imaging scans were included in this review. All patients showed some improvement by the authors' magnetic imaging criteria after anterior cranial vault remodeling. Despite these findings, the authors recommend that until the anterior approach can be further studied, symptomatic children should undergo standard posterior neurosurgical decompression. The authors speculate that the presence of cerebellar tonsillar herniation may be a relative indication for decompressing the cranial vault in the craniofacial dysostoses. In addition, they propose that the descriptive anatomic term "cerebellar tonsillar herniation" be substituted for the misnomer "Chiari malformation" in these children.
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PMID:New methods for the evaluation and treatment of craniofacial dysostosis-associated cerebellar tonsillar herniation. 1174 68

Congenital diaphragmatic hernia (CDH) is often associated with major anomalies and chromosomal abnormalities. Chromosomal abnormalities are usually detected in 9.5% to 34% of fetuses with CDH prenatally diagnosed and the defect has also been reported in association with multiple syndromes such as Pallister-Killian syndrome, Fryns syndrome, Di George syndrome and Apert syndrome. Among the chromosomal abnormalities associated with CDH, trisomy 21, 18, and 13 are most common. Association with complex chromosomal aberrations such as mosaicism has also been reported. However, CDH presented in a fetus with Y-autosome translocation is extremely rare. Herein, we reported a case of fetus with 46,XY/46,X,-Y, +der(Y)t(Y;1)(q12;q12) mosaicism who presented with CDH diagnosed by ultrasonography at 19 weeks' gestation.
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PMID:Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report. 1622 71

Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. The clinical manifestation of CS includes malformation of skull, intracranial hypertension, brain hernia, developmental disorder of cerebral function, strabismus, and etc, while SCS has more complex manifestation. Along with the improvement of multidisciplinary cooperation, the ophthalmic complication of CS, like strabismus, is recognised by oculists gradually. This review is summarizing the clinical manifestation, complicated strabismus, pathogenesis and multidisciplinary cure of CS. (Chin J Ophthalmol, 2016, 52: 626-630).
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PMID:[Craniosynostosis and strabismus]. 2756 83

Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate.
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PMID:Variable phenotypic expression of Apert syndrome in monozygotic twins. 3065 8