ISSN:0148-7299    

DOI:10.1002/ajmg.1320370602

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThis presentation records the early history of the description of the broad thumb‐hallux syndrome and attempts to update the current state of knowledge about this syndrome.Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or straight nose, antimongoloid slant of palpebral fissures, apparent or clinical hypertelorism and grimacing smile; stature and head circumference (OFC) below 50th centile; mental, motor, social, and language retardation; stiff awkward gait; and incomplete or delayed descent of testes in males. Information on associated clinical factors, familial occurrence, and cytogenetic findings is presente

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370603

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractThis study reports the physical and radiographic characteristics of 45 patients with Rubinstein‐Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well‐known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370604

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractIn order to examine several aspects related to the natural history of the Rubinstein‐Taybi syndrome, we performed a questionnaire study of 50 patients who had been diagnosed with the condition. The cases were ascertained through a national parent support group and all of the individuals had been reared at home. The most frequent problems encountered were inadequate weight gain in infancy, eye problems, dental abnormalities, congenital heart defects, urinary tract problems, and severe constipation. These medical disorders and others resulted in approximately 10 times the average number of hospitalizations and surgeries as the general population of children.None of the 91 sibs of our study group were affected with the condition. Thirty‐seven patients had undergone psychological testing with an average IQ of 51 and a range of 30 to 79. Timing for the attainment of various developmental stages was also determined. Individuals with Rubinstein‐Taybi syndrome were found to have particular difficulty with expressive speech skills. Indexes for maladaptive behavior were calculated showing that approximately 10% of patients had significant behavior pro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370605

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractRubinstein‐Taybi syndrome is a rare multiple congenital anomaly (MCA) syndrome comprising mental and growth retardation, broad thumbs and big toes, and unusual face. The classical appearance is easy to recognize. It includes downslant of the palpebral fissures, epicanthal folds, ptosis, strabismus, highly arched palate, and apparently low‐set angulated ears with thickened helices. The nose has a beaked appearance, broad fleshy bridge, deviated septum that is long, protruding below the level of the nasal alae with an associated short columellaSince the typical facial phenotype may not be obvious until late childhood, I have evaluated more than 40 cases of Rubinstein‐Taybi syndrome, seen at varying ages from the newborn period through infancy, childhood, and adulthood, in order to learn more about the early facial appea

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370606

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractOral findings in 45 patients with Rubinstein‐Taybi syndrome living in The Netherlands are compared with those from the literature. The main non‐dental findings were thin upper lip, small oral opening, pouting lower lip, retro/micrognathia, and apparently highly arched, narrow palate. Cleft uvula, cleft palate, or, rarely, cleft upper lip can be part of the syndrome. Timing of the eruption of deciduous and permanent dentition is normal. Sixty‐two percent of patients have malpositioned, crowded teeth. Marked caries was found in 36% and was possibly caused by problems in dental care due to the small opening of the mouth, malposition and malformation of the teeth, and non‐cooperation of the patients. Hypodontia, hyperdontia, and natal teeth can be manifestations of the syndrome. In 73% of all patients and in 92% of all permanent dentitions, talon cusps were found. Two or more talon cusps are rarely found in the normal population or other syndromes. Therefore, this finding strongly supports the diagnosis of Rubinstein‐Taybi syndrome in patients in whom this diagnosis is

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370607

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractMetacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein‐Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients.MCPP analysis in Rubinstein‐Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic t

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370608

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractIn order to derive standard curves for height, weight, head circumference (OFC), weight‐for‐height, and height velocity, we obtained serial measurements in 95 patients with the Rubinstein‐Taybi syndrome. Fifty individuals were part of an American study and 45 were ascertained in the Netherlands. Prenatal growth appears to be normal in the Rubinstein‐Taybi syndrome, but height, weight, and OFC rapidly fall below the 5th centile in the first few months of life. Height velocity is somewhat below the mean but within the normal range except for the lack of a pubertal growth spurt. This phenomenon probably contributes to the short stature which is seen in these patients. Males are overweight for height during childhood while females are overweight during adolescence. The average OFC in males is smaller than in females. In general only a minority of adult patients are microc

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370609

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractEpidemiologic data on 45 patients with Rubinstein‐Taybi syndrome from the Netherlands and 50 patients from the USA are compared with data from 407 patients reported in the literature. The 502 probands had a total of 708 sibs, including one probable recurrence. In 12 of 13 proven or possible monozygotic twins both children were affected. Two patients have reproduced with one affected and 2 normal offspring. The empiric recurrence risk figure for sibs is 0.1%. The recurrence risk for offspring of affected individuals could be as high as 50%. The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X‐linked inheritance, nor for a teratogenic cause. No consistent chromosome anomaly was found. An autosomal dominant mutation, either as submicroscopic chromosome deletion or duplication, or a point mutation seems the most likely explanat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370610

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY

摘要:

AbstractEighteen patients with a diagnosis of the Rubinstein‐Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring.The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the other

ISSN:0148-7299    

DOI:10.1002/ajmg.1320370611

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1990

数据来源: WILEY