1/231. patients with CHARGE association: a model to study saccular function in the human.The term CHARGE association refers to a combination of congenital malformations, the mnemonic CHARGE designating the most frequently occurring anomalies in the constellation. "C" indicates coloboma of the retina, "H" heart defects, "A" choanal atresia, "R" retarded growth and/or central nervous system anomalies, "G" genital hypoplasia, and "E" ear anomalies and/or deafness. The inner ear anomaly consists of a specific form of labyrinthine dysplasia that includes Mondini dysplasia of the pars inferior (cochlea and saccule) and complete absence of the pars superior (utricle and semicircular canals). We observed the development of a child with CHARGE association up to the age of 10 years. There was complete absence of nystagmic response to bithermal caloric and rotatory pendular stimuli. A nystagmic reaction was elicited by the off-vertical axis rotation test, indicating stimulation of the saccular macula, the sole remaining vestibular sense organ in this dysplasia. This reaffirms that the saccule is a vestibular organ, even though it is located in the pars inferior. In spite of the severe bilateral vestibular deficit and coloboma of the retina, the child was able to walk at the age of 2 years. The delay in the development of walking was not due to central nervous system anomalies, as suggested by the "R" of the acronym CHARGE, but rather, to the severe sensorineural visual and vestibular deficits.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
2/231. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
3/231. Clinical characteristics of charge syndrome.charge syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of charge syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning charge syndrome.- - - - - - - - - - ranking = 1keywords = coloboma (Clic here for more details about this article) |
4/231. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
5/231. New case of the Richieri-Costa/Guion-Almeida syndrome.We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
6/231. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.- - - - - - - - - - ranking = 2.5keywords = coloboma (Clic here for more details about this article) |
7/231. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation.A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder.- - - - - - - - - - ranking = 2keywords = coloboma (Clic here for more details about this article) |
8/231. Autistic disorders in children with CHARGE association.Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
9/231. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.- - - - - - - - - - ranking = 1.5keywords = coloboma (Clic here for more details about this article) |
10/231. Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.- - - - - - - - - - ranking = 0.5keywords = coloboma (Clic here for more details about this article) |
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