Cases reported "Cleft Lip"

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1/85. Camouflage in head and neck region--a non-invasive option for skin lesions.

    The technique of camouflage, a non-invasive procedure to correct flaws in the texture and colour of the facial skin, is presented. The acceptance and use of camouflaging by 52 patients with different diagnoses are presented. The advantages of camouflaging are discussed in comparison to medical tattooing.
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ranking = 1
keywords = nose
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2/85. Augmentation rhinoplasty using an L-shaped auricular cartilage framework combined with dermal fat graft for cleft lip nose.

    We prepared an L-shaped framework using autogenous auricular cartilage and combined this with dermal fat, according to each patient, to graft it in 12 patients with cleft lip nose. Although auricular cartilage is weak on its own, by our method we obtained a strong columella strut and nasal dorsum augmentation at the same time. Dermal fat graft provided camouflage for cartilage irregularities and was useful for increasing the graft volume. Although absorption caused a decreased volume to a certain extent, there were no other complications such as cyst formation, and a natural nasal contour was achieved in all patients.
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ranking = 5
keywords = nose
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3/85. Confirmation of Kapur-Toriello syndrome in an Italian patient.

    We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.
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ranking = 1
keywords = nose
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4/85. Full-thickness skin graft in the secondary repair of bilateral cleft lip. A case report.

    A 13-week-old boy with bilateral complete cleft lip and palate is presented. He had three attempted repairs of his lip elsewhere over a period of four weeks, and all of these broke down. Consequently, a substantial amount of his prolabium became necrotic. After a preoperative orthodontic realignment of the cleft segments, a secondary lip/nose repair was performed. The mucosa was reconstructed by advancement flaps. The orbicularis muscle was dissected out from its abnormal insertion and reconstructed in the midline. The philtrum was reconstructed with a full-thickness skin graft from the right postauricular area. The six-month postoperative result was satisfactory. This technique could be considered as an alternative to primary Abbe flap in secondary reconstruction of the cleft lip, although long-term follow-up must be obtained.
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ranking = 1
keywords = nose
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5/85. Frontonasal dysostosis in two successive generations.

    Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.
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ranking = 1
keywords = nose
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6/85. Nasal abnormalities in facial clefts.

    After a short review of their development rare clefts of the nose occurring together with facial clefts are described in a number of clinical cases. These may be divided into 6 groups: 1. clefts of the nose; 2. oblique facial clefts; 3. nasal abnormalities in cleft lip and palate cases; 4. nasal abnormalities in median cleft palate cases; 5. aplasia of the premaxilla; 6. syndromes associated with nasal abnormalities and facial clefts. The discussion deals with the literature, aetiology, prognosis and therapeutic aspects. The publication of individual rare cases is suggested.
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ranking = 2
keywords = nose
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7/85. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity.

    A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos. Basal encephalocele is a rare disease, and usually not detectable from the outside. In this case, initially the cause of an upper airway obstruction was considered to be posterior rhinostenosis, and posterior rhinoplasty with inferior nasal conchectomy was scheduled. However, in preoperative examination, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a bony defect in the sphenoidal bone and a cystic mass in communication with cerebrospinal fluid, herniating into the nasal cavity through the bony defect. The mass was diagnosed as a transsphenoidal encephalocele, the scheduled operation cancelled, and tracheostomy performed for airway management. The possibility of basal encephalocele should be considered in the case of upper airway obstruction with facial midline deformity.
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keywords = nose
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8/85. Counseling dilemmas in EEC syndrome.

    In this report we describe a prenatally diagnosed case with four-limb ectrodactyly and cleft lip/palate. The family history reveals three-generation oligodontia. The difficulties in counseling of the families with EEC syndrome are discussed.
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keywords = nose
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9/85. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

    trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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ranking = 1
keywords = nose
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10/85. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature.

    Frontonasal dysplasia is defined as hypertelorism, telecanthus and broad bridge of the nose with absent or bifid tip of the nose. The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate are discussed. The contemporary literatures on this rare congenital anomaly are also reviewed.
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ranking = 2
keywords = nose
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