1/10. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/10. Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/10. Unilateral anophthalmos and absence of right cerebral hemisphere.A case is presented of a new eight-month-old infant with congenital anophthalmos and ipsilateral absence of cerebral tissue. Various central nervous system anomalies are described as associated with anophthalmos. Therapy is directed toward enlargement of the socket by expansion and/or surgical techniques. Early expansion therapy within the first year of life appears warranted in view of differential orbital growth rates.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/10. Determining role of the optic vesicle in orbital and periocular development and placement.Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia hypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.- - - - - - - - - - ranking = 0.4keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/10. Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/10. anophthalmos in an infant with multiple congenital anomalies.A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/10. association of anophthalmia and esophageal atresia.We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other hand generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a development field. Concurrence of these defects appears to be non-random.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/10. Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations.Oculocerebrocutaneous syndrome consists essentially of orbital cysts and microphthalmia/anophthalmia, focal dermal defects, skin appendages and malformations of the central nervous system. Up to now, about 20 sporadic cases have been reported. Limited information is available on the clinical spectrum and on the natural history. We present the long-term follow-up of a 19 year-old patient who was one of the first two patients described by Delleman and Oorthuys in 1981. Furthermore, we report on a new case presenting with bilateral anophthalmia and orbital cysts, typical skin lesions, a complex brain malformation and cleft lip palate. This infant died due to the severe cerebral malformations at the age of 10 months. Encephalocraniocutaneous lipomatosis, focal dermal hypoplasia and microphthalmia with linear skin defects (MLS) syndrome are discussed as the most important differential diagnostic entities.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/10. Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?We report on a patient with multiple congenital anomalies including anophthalmia, cleft lip and palate, and central nervous system anomalies similar to the case reported by Leichtman et al. [1994: Am J Med Genet 50:39-41] and to oculocerebrocutaneous (Delleman) syndrome. Although the two cases and those with oculocerebrocutaneous syndrome may represent separate but overlapping entities, our patient and the case described by Leichtman et al. [1994: Am J Med Genet 50:39-41] may represent a more severe form of oculocerebrocutaneous syndrome.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/10. Cerebro-oculo-nasal syndrome: another case and review of the literature.Cerebro-Oculo-Nasal syndrome; a new multiple congenital anomaly/mental retardation syndrome was first reported by Richieri-Costa and Guion-Almeida in 1993 (Am J Med Genet 47:702-706) in two patients. To the best of our knowledge four additional cases have been reported. The main features of the syndrome are anophthalmia/microphthalmia, abnormal nares, and central nervous system anomalies. In this report, an additional sporadic case of this syndrome is presented. A 6-year-old girl from a non-consanguineous couple with normal prenatal growth parameters and retarded postnatal growth had anophthalmia, uplifted right nares with skin tag, and slight clefting at the tip of the nose, upper lip and gingiva. She also had a high-arched narrow palate, slightly low set ears, hypertelorism, a CNS defect and mental retardation. Additional findings were hypoplastic teeth with dental malocclusion, muscular hypotonia and midline hyperpigmentation over the anterior neck and the abdomen.- - - - - - - - - - ranking = 0.2keywords = central nervous system, nervous system (Clic here for more details about this article) |
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