Cases reported "rubinstein-taybi syndrome"

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1/74. Bilateral extra tarsal bones in rubinstein-taybi syndrome: the fourth cuneiform bones.

    rubinstein-taybi syndrome is a syndrome of mental retardation associated with digital changes, consisting mainly of broad thumbs and large toes. This paper deals with pedal changes in a patient with this syndrome in whom bilateral, large, extra tarsal bones occurred between the medial cuneiform and intermediate cuneiform bones. They articulated with these bones, as well as with the first and the second metatarsals. It is suggested that these extra tarsal bones be labelled as the fourth cuneiform bones (os cuneiformis IV). To the best of the author's knowledge, such an extra tarsal bone has never been reported in humans or other mammalians. One could speculate that they originated from bilateral extra ossification centers or from an isolated, accelerated ossification and extreme enlargement of the so-called os intercuneiforme, a supernumerary ossicle, in this patient with rubinstein-taybi syndrome. ( info)

2/74. Juvenile glaucoma in the rubinstein-taybi syndrome.

    A 10-year-old retarded child was seen by an ophthalmologist because of strabismus. Examination of the optic nerve heads revealed cupping consistant with glaucoma and initiated a referral. The appearance of this girl, with flat-broad based thumbs and toes, small head, low set ears, high arched brows, antimongoloid slant to the eyes, high arched palate, associated with mental retardation, and strabismus suggested the Rubinstein-Tabyi Syndrome. gonioscopy revealed a high iris insertion, while tonometry indicated mildly elevated pressures in the right eye. Examination of the optic nerve heads showed large glaucomatous type cups, more so on the right with compromise of the temporal rim. trabeculectomy was effective in controlling the intraocular pressure in the right eye. The association of juvenile glaucoma with the rubinstein-taybi syndrome requires that ophthalmic referral to assess glaucoma be an essential part of the evaluation. ( info)

3/74. Familial macroglossia-omphalocele syndrome.

    A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the rubinstein-taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event. ( info)

4/74. rubinstein-taybi syndrome: a girl with a history of neuroblastoma and premature thelarche.

    A 7-year-old girl with rubinstein-taybi syndrome (RTS) who had a history of neuroblastoma and premature thelarche is reported. The neuroblastoma was detected at age 6 months on a nation-wide neuroblastoma screening program, surgically removed, and took a favorable clinical course with minimal therapy. She developed isolated breasts at age 6 years, had normal plasma levels of estradiol, follicular-stimulating hormone (FSH), and luteinizing hormone (LH), and showed a FSH-predominant pattern on the LH-releasing hormone stimulation test. In view of these findings, she was diagnosed to have premature thelarche. Premature thelarche may not be uncommon in girls with RTS. ( info)

5/74. Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy.

    rubinstein-taybi syndrome is characterized by the presence of a peculiar facies, mental retardation, and broad thumbs and great toes. Several associated cutaneous abnormalities have been reported with this syndrome. Ulerythema ophryogenes is a form of follicular keratosis associated occasionally with other ectodermal defects and congenital anomalies. We describe a 9-year-old child with rubinstein-taybi syndrome and ulerythema ophryogenes. This association has not been described previously to our knowledge. ( info)

6/74. FISH studies in 45 patients with rubinstein-taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

    rubinstein-taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic 16p13.3 deletion of the CBP gene. Using FISH and cosmid probes RT100, RT191 and RT203 we studied 45 RTS patients from germany, the czech republic, austria and turkey and found four deletions (8.9%, pooled data including other studies: 11%). All deletions were interstitial; three spanned the CBP gene (RT100-RT203) and one was smaller (RT100 only). Previous studies reported no phenotype-genotype correlation between RTS patients with or without a deletion. Our findings suggest a more severe phenotype. The mean age at presentation was 0.96 years in patients with a deletion as against 11.12 years in those without. patients A and B with a deletion died in infancy which is rare in RTS and was not observed among the other patients. patients A and D had accessory spleens, Patient A with hypoplastic left heart, abnormal pulmonary lobulation and renal agenesis. This is the second report of hypoplastic left heart and the first report of polysplenia with RTS. The signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome. ( info)

7/74. Possible case of rubinstein-taybi syndrome in a prehistoric skeleton from west-central illinois.

    I describe an adult female skeleton (#Yo3-96) from the Yokem Mound skeletal series that had microcephaly; mild micrognathia; a broad nasal bridge; orbital hypertelorism; hypoplasia of the first metacarpals; pes planus; anomalies of the cervical spine, ribs, and sternum; and delayed epiphyseal remodeling of the radii and tibiae. Because the Yokem series has been subject to extensive measurement in previous studies, Yo3-96 can be characterized metrically and compared with others from her population. A differential diagnosis is made by comparing the available skeletal evidence with the known syndromes characterized by radial ray dysplasia. It is suggested that Yo3-96 represents the earliest known case of rubinstein-taybi syndrome, a mental retardation syndrome that has been described in individuals from several modern populations. ( info)

8/74. rubinstein-taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

    rubinstein-taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human creb-binding protein (CBP) gene, either by gross chromosomal rearrangements or by point mutations, leads to RTS. Translocations and inversions involving chromosome band 16p13.3 form the minority of CBP mutations, whereas microdeletions occur more frequently (approximately 10%). Breakpoints of six translocations and inversions in RTS patients described thus far were found clustered in a 13-kb intronic region at the 5' end of the CBP gene and could theoretically only result in proteins containing the extreme N-terminal region of CBP. In contrast, in one patient with a translocation t(2;16)(q36.3;p13.3) we show by using fiber FISH and Southern blot analysis that the chromosome 16 breakpoint lies about 100 kb downstream of this breakpoint cluster. In this patient, Western blot analysis of extracts prepared from lymphoblasts showed both a normal and an abnormal shorter protein lacking the C-terminal domain, indicating expression of both the normal and the mutant allele. The results suggest that the loss of C-terminal domains of CBP is sufficient to cause RTS. Furthermore, these data indicate the potential utility of Western blot analysis as an inexpensive and fast approach for screening RTS mutations. ( info)

9/74. rubinstein-taybi syndrome with humoral and cellular defects: a case report.

    The first association of rubinstein-taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections. ( info)

10/74. Post-cricoid web associated with rubinstein-taybi syndrome.

    A case of dysphagia due to a post-cricoid web in a seven-year-old boy with rubinstein-taybi syndrome is presented. The main features of this syndrome are summarized with particular reference to dysphagia and with previous cases of post-cricoid webs in children reviewed. ( info)
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