Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.
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PMID:The Saethre-Chotzen syndrome. 122 25

In 34 patients with hypertelorism aged on the average 12.6 years, 24 underwent intracranial surgery (combined intra- and extracranial approach), 2 (moderate) U-osteotomy (subcranial approach), and 8 (mild) canthoplasties. Improved results were obtained in the patients with various types of hypertelorism. The complications were reviewed. Of the 24 patients undergone intracranial surgery, one died, 4 had cerebrospinal fluid leakage, and 4 had keratitis. No seizure, cerebral edema, meningitis, blindness, and ptosis were observed in these patients. Average blood loss was 72% of blood volume. Average duration of surgery was 7.5 hours. The causes of hypertelorism such as craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma were also discussed. Satisfactory appearance was seen in most of the patients.
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PMID:[Surgical correction of 34 patients with hypertelorism]. 147 4

With the possible exception of aesthetic considerations, the visual system is more involved in craniosynostosis than any other. Changes may be an inherent feature of the pathologic process or occur as a secondary complication. Several of these are potentially devastating, resulting in substantial permanent impairment in visual function. Because these are avoidable if recognized and managed early, prompt involvement of an ophthalmologist in the care of children with craniosynostosis is essential. Improvement in the appearance of these cases cannot obscure the importance of functional problems. In particular, disc edema, optic atrophy, and progressive optic nerve dysfunction may accompany increased intracranial pressure even without evidence of hydrocephalus and even with apparently open fontanelles. Uncorrected refractive error (particularly anisometropia), strabismus, ptosis, and corneal exposure problems are an invitation to the development of amblyopia. If not reversed, this can lead to permanent visual disability. Proptosis and corneal exposure problems are a third potentially treatable cause of functional blindness. Early diagnosis and prompt care will hopefully continue to improve the prognosis for these increasingly treatable children.
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PMID:Ophthalmic features of craniosynostosis. 182 6

We report on a 2-year-old girl with Michels syndrome, a condition characterized by mental deficiency, craniosynostosis, blepharophimosis, ptosis, and epicanthus inversus. The phenotypic findings are compared with those of previously reported cases.
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PMID:Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. 224 39

Lacrimal gland prolapse is an important, though uncommon, feature found in craniofacial abnormalities as well as in cases of poor function congenital ptosis. It occurs secondary to a number of conditions, including increased posterior pressure secondary to decreased orbital volume; also, supportive structures of the gland often may be weak in conjunction with a poor function ptosis or as a result of trauma at the time of major reconstruction. Recognition of the prolapsed gland and its replacement into the lacrimal gland fossa in craniosynostosis syndromes, as well as in cases of poor function congenital ptosis in general, allows the temporal eyelid to approach a more normal position, yielding an improved functional and cosmetic result.
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PMID:Lacrimal gland prolapse in craniosynostosis syndromes and poor function congenital ptosis. 233 Feb 5

We report a child with total anomalous pulmonary venous drainage, ptosis, hypoplastic teeth, sagittal craniosynostosis, and developmental delay, together with several unusual features.
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PMID:Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis. 258 65

Prolapse of conjunctiva from the superior cul-de-sac, an infrequent complication of levator resection surgery, has been observed by us to have occurred following craniofacial reconstruction for craniostenosis. Three cases of conjunctival prolapse are presented: two that followed maximal external levator resections, and one that occurred after a supraorbital rim advancement and a subsequent cerebrospinal fluid leak. The causes of conjunctival prolapse and its appropriate treatment are reviewed.
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PMID:Treatment of prolapsed conjunctiva. 315 36

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.
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PMID:A new acro-cranio-facial dysostosis syndrome in sisters. 334 80

We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid slant of the palpebral fissures, ptosis of the lateral upper lids and high-arched narrow palate. There are additional findings fitting the Gorlin-Chaudhry-Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis and dental anomalies are missing, which were described in the four females previously reported with the probably autosomal recessive Gorlin-Chaudhry-Moss syndrome. Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects of the cranial vault, the Saethre-Chotzen syndrome should also be considered in our patient.
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PMID:Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? 755 54

A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.
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PMID:Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly. 769 75


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