Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.
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PMID:Liver fibrocystic disease and polydactyly: proposal of a new syndrome. 1134 30

Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism.
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PMID:Prenatally detected trisomy 7 mosaicism in a dysmorphic child. 1247 42

A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome analysis and blood biochemistry were normal. Unilateral microphthalmia, retinal dysplasia and internal strabismus were the ocular findings. Magnetic resonance imaging clearly demonstrated the thickened, irregular, nearly agyric cobblestone cerebral cortex with underlying unmyelinated white matter, hydrocephalus, hypoplastic corpus callosum, brain stem and cerebellum with retrocerebellar cyst and posterior cephalocele.
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PMID:Walker-Warburg syndrome variant. 1245 9

We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also brachydactyly, small nails, strabismus and delay of menarche. Her 16-year-old sister had also short trunk stature with severe kyphoscoliosis, hearing loss, brachydactyly, platyspondyly and mild precocious calcification of costal cartilages. Their 12-year-old brother had short trunk stature, kyphoscoliosis, brachydactyly, and platyspondyly but did not show precocious calcification of costal cartilage. The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum. In addition, the older sister had strike precocious calcification of costal cartilage while her sister and brother had severe kyphoscoliosis. Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had brachydactyly which was not present in Hobaek type brachyolmia. The parents were healthy and first cousins signifying autosomal recessive inheritance. We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.
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PMID:Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? 1278 9

Children with fetal alcohol syndrome (FAS) may have impaired vision and various ocular abnormalities. All parts of the eye may be affected and anomalies such as microphthalmus, microcornea, Peters' anomaly, cataract, persistent hyperplastic primary hyaloid vitreous body, coloboma of the iris and choroid, retinal dysplasia and, most commonly, optic nerve hypoplasia and tortuosity of the retinal vessels, have been reported. The periocular facial features consist of short palpebral fissures (included in the criteria for diagnosis of FAS), telecanthus, epicanthus and blepharoptosis. Visual function may be reduced to a moderate or severe degree. Refractive errors and strabismus are common. Considering the high frequency of ocular pathology in FAS, an ophthalmological examination is helpful in making the diagnosis. The early detection of impaired vision and ocular abnormalities in affected children is important in the management of the disorder. In this article, the ophthalmological signs and symptoms in children with FAS are presented.
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PMID:Visual impairment and ocular abnormalities in children with fetal alcohol syndrome. 1522 41

We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe manifestation of cerebrofaciothoracic dysplasia syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Ophthalmologic findings in cerebrofaciothoracic dysplasia. 1572 98

Our case report describes a primary aneurysmal bone cyst (ABC) of the maxillary sinus in a 12-year-old girl. The young patient presented with progressive diplopia, strabismus, and rapidly growing painless swelling of the left cheek. Imaging studies showed a heterogeneous contrast enhancing mass expanding the left maxillary sinus. The lesion was completely resected endoscopically and histological examination reported it as an ABC. The patient recovered well and is free of recurrence 9 months following surgery. ABC is a benign lesion usually associated with other bone pathology (fibrous dysplasia). It may behave aggressively and invade the orbit; so resection is necessary. Minimally invasive techniques such as endoscopic sinus surgery can be performed successfully in select cases. Long follow up is important because recurrence may occur, in which case further resection is warranted.
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PMID:Primary aneurysmal bone cyst of the maxillary sinus in a child: case report and review of the literature. 1660 83

In spite of albinism being one of the visual impairments which has been known for over a century, it has only been known for a few decades that albinism is correlated to severe cerebral morphological developmental alterations. The increasing knowledge about the role of melanin in the development and orientation of cerebral neurons not only renders more insight into albinism, but also a greater insight in the physiological neuronal and cerebral development in man. Concerning the morphological and visual phenotype there are new clinical findings which enlarge the known spectrum of albinism. In a representative group of 506 persons with oculocutaneous and ocular albinism who are in care at the Department of Ophthalmology at the University of Saarland (UKS), we present a staging of morphological findings of the iris, retinal pigment epithelium and macula, and of the optic nerve head which has been in use for 10 years. Albinism may present with a remarkably mild ocular phenotype and a near to normal functional phenotype. We present correlations between molecular genetic types of albinism, ocular phenotype and visual function. Of great importance concerning later visual acuity is the dysplasia of the optic nerve head (ONH), which is a frequent finding in albinism. The appearance of the ONH should always be included in any clinical description of an albinism patient. It is highly possible that due to a moderate phenotype there are still many patients who have not been diagnosed yet. Visual acuity of 30/20 to 20/20 and no nystagmus do not rule out albinism. In addition, when performing albino VEPs in phenotypically normal children with infantile strabismus, small ONHs, but normal visual acuity and no nystagmus, the classical atypical chiasmal crossing is sometimes found. Therefore, the number of persons having undiagnosed albinism is probably quite high, perhaps there even is a very broad transition zone from normal to albinotic.
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PMID:[Phenotype of the visual system in oculocutaneous and ocular albinism]. 1768 49

This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium. Even though the calcific plaques were successfully removed, visual acuity in both eyes gradually decreased and electroretinography was extinguished.
J Pediatr Ophthalmol Strabismus 2011
PMID:Presumed atypical HDR syndrome associated with Band Keratopathy and pigmentary retinopathy. 1964 85

Walker-Warburg syndrome, also known as HARD+/-E, is a congenital autosomal recessive disorder characterized by hydrocephalus, agyria, and retinal dysplasia, with or without encephalocele. The authors describe an infant with Walker-Warburg syndrome who presented with microphthalmia, retinal detachment, and leopard spot retinopathy.
J Pediatr Ophthalmol Strabismus 2009 Oct 02
PMID:Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. 1979 10


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