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1. |
Papers on Brachmann‐de Lange syndrome presented at the 12th annual David W. Smith workshop on morphogenesis and malformations |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 939-939
John M. Graham,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320470702
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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2. |
de Lange syndrome: A clinical review of 310 individuals |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 940-946
L. Jackson,
A. D. Kline,
M. A. Barr,
S. Koch,
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摘要:
AbstractThree hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty‐four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self‐help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support. © 1993 Wiley‐Lis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470703
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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3. |
Clinical variability within Brachmann‐de Lange syndrome: A proposed classification system |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 947-958
Margot I. van Allen,
Giorgio Filippi,
Jacqueline Siegel‐Bartelt,
Siu‐Li Yong,
Barbara McGillivray,
Ron M. Zuker,
Charles R. Smith,
J. F. Magee,
Susan Ritchie,
Ants Toi,
James F. Reynolds,
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摘要:
AbstractSeven patients, including two sibs, with the Brachmann‐de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I (“classic”) patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (<2.5 S.D. below mean for gestation) becoming more severe postnatally (<3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death.Type II (“mild”) BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre‐and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS.Type III (“phenocopies”) BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures. © 1993
ISSN:0148-7299
DOI:10.1002/ajmg.1320470704
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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4. |
Brachmann‐de Lange syndrome. Delineation of the clinical phenotype |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 959-964
M. Ireland,
D. Donnai,
J. Burn,
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摘要:
AbstractA total of 31 cases previously diagnosed as having Brachmann‐de Lange syndrome were ascertained and examined, of which 11 were thought to have been misdiagnosed. Of those correctly diagnosed, there appeared to be a phenotypic dichotomy with classical and mild cases. Those facial findings of greatest diagnostic value were the combination of the characteristic eyebrows, long philtrum, thin lips and crescent‐shaped mouth. The characteristic eyebrows were neat, well defined and arched as though they had been pencilled. This combination of anomalies was absent in postpubertal males but not in postpubertal females. Facial abnormalities most likely to lead to incorrect use of the eponym were hypertrichosis, synophrys, and bushy eyebrows. © 1993 Wiley‐Lis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470705
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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5. |
Mild Brachmann‐de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six‐year‐old boy |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 965-968
Carolyn Bay,
Joyce Mauk,
Jerilynn Radcliffe,
Paige Kaplan,
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摘要:
AbstractBrachmann‐de Lange syndrome (BDLS) is a rare/multiple congenital anomaly/mental retardation (MCA/MR) syndrome with variable expression, making diagnosis of mild cases difficult. The most consistent manifestations appear to be the characteristic face, which can be subtle in children who are mildly affected [Ireland and Burn, 1991: Twelfth Annual David W. Smith Workshop on Malformations and Morphogenesis]. Other aspects of the syndrome include variable degrees of mental retardation, growth retardation, structural abnormalities of the limbs, and behavior abnormalities, noted to be “autistic” [Jones, 1988: “Smith's recognizable patterns of human malformation”]. Johnson et al. [1976: Pediatr Res 10:843–850] described a behavior phenotype felt to be common in patients with BDLS. They predicted that patients with BDLS may respond to “behavioral intervention”. Other behavior abnormalities in BDLS have been reported [Barr et al., 1971: Neurop̈adiatrie 3:46–66; Hawley et al., 1985: Am J Med Genet 20:453–459].We report on a 6‐year‐old boy with the facial characteristics of BDLS, normal birth weight, prenatal onset of a small head relative to length, postnatal onset growth deficiency, nearly normal psychomotor development with onset of clear developmental delays by 2 years. He developed behavior problems similar to those seen in other patients with BDLS. These behaviors are most consistent with Pervasive Development Disorder‐NOS (PDD), and Autistic Disorder [DSM‐III‐R, 1987] which encompasses a spectrum of mild to severe autistic behaviors. We report successful in‐patient care utilizing medical and behavioral techniques to reduce the frequency of the behaviors. We feel that the presence of the characteristic behaviors may be helpful in confirming the diagnosis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470706
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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6. |
Mild Brachmann‐de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 969-976
John B. Moeschler,
John M. Graham,
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摘要:
AbstractSince 1981, we have identified 3 patients with mild Brachmann‐de Lange syndrome (BDLS) who have had subtle but definite manifestations of the syndrome and mild effects on growth and development.J.G. (B.D. 12/9/72) was first examined at 20 months. He had rather typical craniofacial findings and hirsutism, limitation of full supination of his arms, and brachyclinodactyly of the 5th fingers. IQ was estimated at 65.K.H. (B.D. 10/10/83) was first examined by us at age 9 months and was diagnosed as having “mild” BDLS. At age 5, K.H. has demonstrated relatively normal cognitive development (low average–average IQ of 74) with specific learning problems: weakness of visual‐motor skills, delayed expressive language development, and articulation difficulties. At age 7, he was attending a regular 1st grade classroom, with some special education assistance.M.E.(B.D. 4/19/78) was diagnosed at age 10 years as having “mild” BDLS. His physical changes were more subtle than those of the 2 patients above. At age 10, M.E. was in the regular 4th grade classroom receiving special education support. His IQ was in the borderline‐low‐average range. He had strengths in rote verbal skills, with weaknesses in reading and writing.These 3 patients demonstrate mild BDLS in which characteristic manifestations of the syndrome, particularly craniofacial anomalies, are present and recognizable, but quite subtle, thus making the clinical diagnosis difficult. In addition, the milder physical phenotype is associated with milder cognitive and behavioral consequences. When comparing patients with mild BDLS to those in our practice (4 others) with typical changes, we find that birth weight, absence of major anomalies, and subtlety of craniofacial abnormalities are predictive of mildly affected patients. © 19
ISSN:0148-7299
DOI:10.1002/ajmg.1320470707
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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7. |
Variability of the Brachmann‐de Lange Syndrome |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 977-982
A. Selicorni,
F. Lalatta,
E. Livini,
V. Briscioli,
T. Piguzzi,
D. Clerici Bagozzi,
P. Mastroiacovo,
G. Zampino,
G. Gaeta,
A. Pugliese,
P. Cerutti‐Mainaroli,
A. Guala,
L. Zelante,
M. Stabile,
S. Belli,
P. Franceschini,
A. Gianotti,
G. Scarano,
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摘要:
AbstractBrachmann‐de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well‐known. Recently some reports suggested the possible existence of a mild BDLS phenotype.We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups. © 1993 Wiley‐Lis
ISSN:0148-7299
DOI:10.1002/ajmg.1320470708
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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8. |
On the variability of the Brachmann‐de Lange syndrome in seven patients |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 983-991
J. G. Leroy,
J. Persijn,
V. van De Weghe,
R. van Heck,
A. Oostra,
S. De Bie,
M. Craen,
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摘要:
AbstractThe results of the clinical and radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann‐de Lange syndrome (BDLS) and reject the existence of a “classic” type of patient and a “mild phenotype” without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance. © 1993 Wiley
ISSN:0148-7299
DOI:10.1002/ajmg.1320470709
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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9. |
Mild mental retardation with classic somatic phenotype in the Brachmann‐de Lange syndrome |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 992-994
Carol L. Clericuzio,
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摘要:
AbstractSevere Mental retardation is the most handicapping disability for individuals with Brachmann‐de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a “mild” BDLS somatic phenotype. Here we report on 2 high‐functioning females, ages 3.7 and 10.6 years, with the classic BDLS somatic phenotype, i.e., all growth parameters at 4–5 standard deviations bellow the mean prenatally and postnatally. These 2 patients serve to extend the spectrum of classic BDLS to include cognitive function in the mild‐to ‐moderate range of mental retardation. © 1993 W
ISSN:0148-7299
DOI:10.1002/ajmg.1320470710
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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10. |
Brachmann‐de Lange syndrome with normal IQ |
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American Journal of Medical Genetics,
Volume 47,
Issue 7,
1993,
Page 995-998
Howard M. Saal,
Carole A. Samango‐Sprouse,
Leslie A. Rodnan,
Kenneth N. Rosenbaum,
Deborah A. Custer,
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摘要:
AbstractThe Brachmann‐de Lange syndrome is a disorder with a high degree of clinical variability, generally associated with moderate to severe mental retardation. To date, 7 previous cases of Brachmann‐de Lange syndrome with normal intelligence (IQ>70) have been described. We report the eighth case of Brachmann‐de Lange syndrome with normal intelligence. In reviewing thr literature, consistent clinical menifestations seen in these 8 patients that are of prognostic value are the absence of significant limb anomalies and birth weight>2,500 g. © 1993 Wiley‐L
ISSN:0148-7299
DOI:10.1002/ajmg.1320470711
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1993
数据来源: WILEY
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