Cases reported "Craniofacial Dysostosis"

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11/56. A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.

    A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new chromosomal deletion syndrome.
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ranking = 1
keywords = nasal
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12/56. 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 = 1.6210533356982
keywords = nose
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13/56. An association of acanthosis nigricans and Crouzon syndrome.

    An 11-year-old Japanese female having acanthosis nigricans associated with Crouzon syndrome is reported. Crouzon syndrome is a craniostenotic craniofacial malformation associated with premature closure of selective calvarial sutures, exophthalmos, maxillary hypoplasia, and a beak-shaped nose. It is an autosomal dominant inherited disorder. Crouzon syndrome is one of the syndromes which may be associated with acanthosis nigricans. The association of acanthosis nigricans with Crouzon syndrome is assumed to be a rare abnormality, although the true frequency is uncertain. We have reviewed the reported cases of acanthosis nigricans associated with Crouzon syndrome and characteristics were discussed.
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ranking = 1.6210533356982
keywords = nose
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14/56. 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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keywords = nasal
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15/56. Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.

    We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed.
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ranking = 6
keywords = nasal
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16/56. Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2).

    A 53-year-old Japanese woman presented with mild mental retardation, short stature, hypertelorism, saddle nose, vertebral fusion, and hydrocephalus, implying an underlying bone growth impairment mainly of the head and neck. A point mutation in fibroblast growth factor receptor 2 (FGFR2) was identified that had previously been seen only in sporadic cases of Crouzon syndrome. This patient did not exhibit any of the typical features of Crouzon syndrome primarily seen in affected infants, such as a severely deformed skull, an apical shaped skull, or severe mental retardation. The patient was diagnosed with a mild form of Crouzon syndrome. The patient's symptoms very early in life may have been ameliorated and modified through growth and aging. The age-related phenotype modifications in Crouzon syndrome are discussed.
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ranking = 9.726320014189
keywords = nose
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17/56. Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.

    Acromelic frontonasal dysostosis (AFND) represents a subgroup of patients with frontonasal malformation with limb abnormalities including preaxial polydactyly and tibial hypoplasia. Previous case reports have suggested autosomal recessive inheritance, given parental consanguinity. However, no affected siblings have been described. Longitudinal clinical history is limited as many do not survive the first years of life. The molecular basis of AFND is not known. Previous investigators have proposed that AFND may result from a perturbation in the Sonic Hedgehog pathway. We present clinical and radiographic findings in two unrelated boys, ages 8 and 9 years, with AFND, one of whom has a family history suggesting dominant inheritance. A focused study of genetic marker data and candidate gene mutation analysis in this family is presented.
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ranking = 6
keywords = nasal
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18/56. frontal lobe atrophy after prolonged frontal bone defect.

    After a frontofacial monobloc in a 12-year-old Crouzon patient, the frontal bone was lost to infection. The patient did not attend postoperative appointments and was lost to follow-up. Nine years later, he reappeared requesting surgical reconstruction. This was performed satisfactorily with a titanium plate; however, it became apparent later that he had considerable atrophy of the frontal lobes and had developed the unstable behavior of patients who have undergone a frontal lobotomy. The atrophy would appear to be the consequence of the long-term absence of the frontal bones and the resultant repetitive frontal lobe microtrauma. Frontal infection and subsequent loss of the frontal bone is a recognized complication of monobloc advancement for faciocraniosynostosis and is mainly caused by the communication between the oronasal cavities and the cranial base. The frontal bone defect would normally be repaired after a delay of 6 months to a year with no significant sequelae. We present the unusual case of a patient whose frontal defect was not reconstructed for 9 years and who, as a result, developed frontal lobe atrophy and subsequent severe psychologic and behavioral difficulties.
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ranking = 1
keywords = nasal
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19/56. New osteotomies for midface advancement in patients with Crouzon syndrome.

    In some patients with Crouzon's syndrome the typical midface advancement can produce an excessive nasal protrusion which calls for subsequent rhinoplasty. Proposed modification of classical Le Fort III procedure consists in midface osteotomy and external distraction without median orbital walls and nasal component. Limited surgical approach through vestibular incision and split lower eyelids makes the operation quite easy and less extensive. So far, three adult patients were successfully treated according to described modality.
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ranking = 2
keywords = nasal
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20/56. Experience of surgical treatment for craniofrontonasal dysplasia.

    We present a case of a 5-year-old girl diagnosed as having craniofrontonasal dysplasia (CFND), which was first reported by Cohen in 1979. CFND is very rare and reports concerning this syndrome have never been found in japan. In our case, frontal plagiocephaly, third degree orbital hypertelorism and clefting nasal tip coexisted. At 10 months after birth when she visited our hospital, signs of craniostenosis were not recognized and cosmetic improvement was considered the main purpose of the treatment. We performed supraorbital bar reshaping, ethmoidectomy and orbitotomy for reconstruction in one-stage at the age of five. The operation produced marked improvement in her exotropia before entering a primary school. Past reports dealing with abnormalities of the central nervous system in this syndrome are few, but agenesis of the splenium was noted in our case. This paper is a report of our findings together with some discussions in reference to the literature.
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ranking = 7.6210533356982
keywords = nose, nasal
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