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)

The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. Syndactyly and renal anomalies were not observed.
J Pediatr Ophthalmol Strabismus
PMID:Cryptophthalmos with an orbital cyst and profound mental and motor retardation. 73 57

Cryptophthalmos is a rare, probably autosomal recessive condition in which the lid folds fail to separate in the embryo resulting in a continuous sheet of skin from the forehead to the cheeks covering the eyes. Cryptophthalmos has many variants and is usually associated with multiple other congenital anomalies. This article reports on an isolated case of "abortive cryptophthalmos" with multiple systemic anomalies. The surgical treatment is described and the general features of the cryptophthalmos syndrome and its variants are reviewed.
J Pediatr Ophthalmol Strabismus
PMID:Abortive cryptophthalmos: a case report and a review of cryptophthalmos. 219 48

We report an infant with bilateral complete cryptophthalmos as part of Fraser Syndrome. Clinical examination and recordings of the electroretinogram and flash visual evoked potential showed a functional visual pathway at retinal and post-retinal levels. Anatomical considerations and the possible complications of surgery made reconstruction of the lids and palpebral fissures inappropriate.
J Pediatr Ophthalmol Strabismus
PMID:Complete cryptophthalmos: case report with normal flash-VEP and ERG. 219 49

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

Four patients with prenatal sonographic findings suggestive of ophthalmic pathology were detected in utero. The definitive diagnoses of infantile fibrosarcoma, persistent hyperplastic primary vitreous/persistent fetal vasculature, Fraser syndrome, and microphthalmia with coloboma and retrobulbar cyst were made postnatally. High-resolution intrauterine sonograms expedited ophthalmic referral and influenced prenatal planning.
J Pediatr Ophthalmol Strabismus 2012 May 22
PMID:Prenatal ultrasonographic detection of ophthalmic diseases. 2262 14