Cases reported "Craniofacial Dysostosis"

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1/56. 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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2/56. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

    The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed.
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keywords = nose
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3/56. Obstructive sleep apnea in a growing patient.

    sleep apnea syndrome (SAS) is a complex respiratory disorder that is very difficult to diagnose and to treat surgically as well as medically. SAS can affect growing patients as well as adults. SAS shows a central, an obstructive, and a mixed form. Diagnosis is based on clinical examination of the patient and instrumental examinations such as teleradiography, nuclear magnetic resonance imaging (NMR), three-dimensional computed tomography, polysomnography, rhinomanometry, and spirometry. The patient presented has an obstructive form of SAS in addition to Crouzon's disease. He underwent a Le Fort III osteotomy to obtain an advancement of the orbitomaxillary complex, allowing an increase in volume of posterior airway space at the level of the hypopharynx.
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keywords = nose
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4/56. The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report.

    A case of Binder syndrome was diagnosed at 21 weeks of gestation using two-dimensional and three-dimensional ultrasound. The first indication of any abnormality was a flattened fetal nose demonstrated in the mid-sagittal plane. Further ultrasound imaging showed the virtual absence of the naso-frontal angle, giving the impression of a flat forehead and small fetal nose. Suspected mild hypertelorism was also seen using transverse and coronal planes. Differential diagnosis of this condition is discussed.
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keywords = nose
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5/56. Prenatal ultrasound diagnosis of frontonasal dysplasia.

    We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). Although several of the typical anomalies are diagnosable by ultrasound in utero (hypertelorism, median cleft lip, anterior cephalocele), very few cases have been reported prenatally, the present being only the third. In the present case, hemimegalencephaly is first reported among the anomalies possibly associated with frontonasal dysplasia. The diagnosis was made at 22 weeks' gestation and was confirmed by necropsy following termination of pregnancy.
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keywords = nasal
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6/56. Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature.

    osteoma cutis, also called cutaneous ossification, refers to the rare occurrence of bone in the skin. It may be primary, occurring in normal skin, or secondary, occurring in disrupted skin tissue. A 42-year-old white woman presented with long-standing progressive primary osteoma cutis involving her head and neck, trunk and extremities. She had craniofacial dysmorphism with mid-face hypoplasia, including saddle nose deformity, mild to moderate generalized joint hypermobility, extensive paravertebral ossification, and disc space calcification. The differential diagnosis for this entity is presented. This phenotype may be a previously undescribed syndrome.
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keywords = nose
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7/56. encephalocele as a late complication of cranial vault reconstruction in a patient with Crouzon's syndrome.

    encephalocele is a rare late complication of craniosynostosis repair. An undiagnosed nick to the dura is the etiology of this complication. It usually presents within a few months to years after repair. This case report describes a patient with Crouzon's disease who had a craniosynostosis repair as an infant and presents 22 years later with an encephalocele. The patient had a thorough physical exam, 2D, and 3D CT Scans as a preoperative workup. Surgical intervention included repair of the encephalocele, cranialization of the frontal sinus with bone grafting, and Lefort III osteomies for mid face advancement. The patient benefited from a two-team simultaneous approach between neurosurgery and Plastic Surgery. The patient also benefited from an aggressive one-stage repair of all her defects and deformities.
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keywords = nose
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8/56. 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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keywords = nose
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9/56. The Saethre-Chotzen syndrome.

    The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.
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keywords = nose
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10/56. Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.

    We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.
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