Cases reported "Craniofacial Dysostosis"

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1/60. Deletion of 1q in a patient with acrofacial dysostosis.

    The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin.
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2/60. Acromelic frontonasal dysostosis.

    We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia. In contrast, the upper limbs were normal. This rare variant of frontonasal dysplasia may represent a distinct autosomal-recessive disorder. We suggest that the molecular basis of this condition may be a perturbation of the Sonic Hedgehog (SHH) signalling pathway, which plays an important part in the development of the midline central nervous system/craniofacial region and the limbs.
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keywords = dysostosis
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3/60. Crouzon disease--a case report.

    The present case of a ten year old boy with craniofacial dysostosis with the features of midfacial hypoplasia is a disease known as Crouzon disease. This disease is characterised by cranial deformities, facial malformation, eye changes and occasional other associated abnormalities. The aim of this case is to discuss the clinical, radiographic features and management of the problems.
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ranking = 0.14285714285714
keywords = dysostosis
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4/60. Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafe-au-lait spots: new acrocraniofacial dysostosis syndrome?

    We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple cafe-au-lait spots. The mother of the propositus has multiple cafe-au-lait spots. Search of POSSUM and the london Dysmorphology database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.
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ranking = 0.71428571428571
keywords = dysostosis
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5/60. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.

    A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood. We report three cases and compare the clinical characteristics of our cases with the previously reported cases of this disorder. Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Even before acanthosis nigricans appears, the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis.
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ranking = 0.14285714285714
keywords = dysostosis
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6/60. Minimally invasive Le Fort III distraction.

    Recent applications of distraction osteogenesis to the Le Fort III osteotomy in patients with craniofacial dysostosis have proven promising (1-3). Distraction has allowed the midfacial segment to be brought further forward and maintained in position with greater stability when compared with the standard technique of intraoperative advancement. Because no bone grafts or plates must be placed, access incisions are necessary only for performance of the osteotomy. In an effort to minimize the morbidity of the procedure, we have begun performing the Le Fort III osteotomy without the coronal incision. Instead, the nasofrontal junction is approached using the medial aspect of an upper blepharoplasty incision. A lower eyelid and gingivobuccal sulcus incision are also used to complete the osteotomy. This technique has resulted in a shorter operative time and decreased blood loss when compared with the Le Fort III distraction procedure using the standard coronal incision.
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ranking = 0.14285714285714
keywords = dysostosis
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7/60. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.

    We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.
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ranking = 0.71428571428571
keywords = dysostosis
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8/60. craniofacial dysostosis with syringomyelia and associated anomalies.

    A 16-year old boy had craniofacial dysostosis, hydrocephalus, and syringomyelia. Other anomalies included platybasia, a Klippel-Feil anomaly, webbed toes, and a cutaneous hemangioma. Evaluation included cerebral angiography, ventriculography, and myelography.
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ranking = 0.71428571428571
keywords = dysostosis
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9/60. Autosomal dominant transmission of acrodysostosis.

    A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
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ranking = 1.1428571428571
keywords = dysostosis
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10/60. acrocallosal syndrome: report of a Brazilian girl.

    We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.
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ranking = 0.14285714285714
keywords = dysostosis
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