1/87. 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 = malformation, nervous system (Clic here for more details about this article) |
2/87. 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 = 3.582413599371keywords = malformation (Clic here for more details about this article) |
3/87. microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.- - - - - - - - - - ranking = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
4/87. Dysgenesis of the internal carotid artery associated with transsphenoidal encephalocele: a neural crest syndrome?We describe two original cases of internal carotid artery dysgenesis associated with a malformative spectrum, which includes transsphenoidal encephalocele, optic nerve coloboma, hypopituitarism, and hypertelorism. Cephalic neural crest cells migrate to various regions in the head and neck where they contribute to the development of structures as diverse as the anterior skull base, the walls of the craniofacial arteries, the forebrain, and the face. Data suggest that the link between these rare malformations is abnormal neural crest development.- - - - - - - - - - ranking = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
5/87. 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 = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
6/87. 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 = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
7/87. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.Renal-coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G) missense mutations. The mother and daughter have optic nerve colobomas and the daughter has vesicoureteral reflux. The severely affected girl developed renal failure and has bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari 1 malformation. We examined genomic dna from these individuals by SSCP and sequencing. The mother and daughter had a novel mutation: a contraction in a string of 7 G's to 6 G's in one allele of PAX2, leading to a premature stop codon two amino acids downstream. The severely affected girl had an expansion to 8 G's, leading to a premature stop codon 27 amino acids downstream. The 8 G expansion has been found in other patients without brain anomalies and has occurred spontaneously in a mouse model, PAX2(1Neu). We expand the known phenotype associated with mutations in PAX2 to include brain malformations. The homoguanine tract in PAX2 is a hot spot for spontaneous expansion or contraction mutations and demonstrates the importance of homonucleotide tract mutations in human malformation syndromes.- - - - - - - - - - ranking = 6.2692237988992keywords = malformation (Clic here for more details about this article) |
8/87. Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up.A patient affected by a multisystem malformation, the CHARGE association, is described. The choanal atresia is one of the stigmata characterizing this syndrome. The main anomalies of the association, the surgical correction (choanoplasty with endoscopic transnasal approach followed by the application of nasal stenting) and a comparison with different techniques are reported.- - - - - - - - - - ranking = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
9/87. Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease).PURPOSE: To report a patient with congenital constrictive malformations of the internal carotid arteries and a morning glory disc anomaly (MGDA). methods: Descriptive case report. RESULTS: A 14-year-old girl underwent serial ophthalmologic examinations since the age of seven years because of blurred vision and floaters. A right optic disk anomaly was present that was most compatible with an MGDA accompanied by an inferior choroidal coloboma. Because of the association of such disc malformations with moyamoya disease, the patient underwent cerebral MRI and MRA that showed narrowing of both internal carotid arteries, a finding consistent with early-stage moyamoya disease. CONCLUSION: This case illustrates the importance of recognizing the association of MGDA with moyamoya disease, a treatable condition that may have devastating neurological consequences.- - - - - - - - - - ranking = 5.3736203990565keywords = malformation (Clic here for more details about this article) |
10/87. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.- - - - - - - - - - ranking = 0.89560339984275keywords = malformation (Clic here for more details about this article) |
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