Abstract:
:Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual impairment. Patients with these three cardinal signs usually have an underlying DNA repair defect. Here we describe clinical and laboratory findings in two patients with trichothiodystrophy and defective DNA repair alongside findings in three other cases who have different trichothiodystrophy syndromes without defective DNA repair. These patients' features are discussed in the light of a practical classification scheme which is based upon a check-list of clinical abnormalities associated with trichothiodystrophy syndromes (Van Neste, 1991).
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Tolmie JL,de Berker D,Dawber R,Galloway C,Gregory DW,Lehmann AR,McClure J,Pollitt RJ,Stephenson JBsubject
Has Abstractpub_date
1994-01-01 00:00:00pages
1-14issue
1eissn
0962-8827issn
1473-5717journal_volume
3pub_type
杂志文章abstract::The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings. ...
journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200207000-00019
更新日期:2002-07-01 00:00:00
abstract::Macrodystrophia lipomatosa characterized by enlargement of one or more fingers or toes with predominantly fibroadipose tissue can be part of an overgrowth syndrome such as Proteus syndrome (Biesecker, 2006) or CLOVES syndrome (Sapp et al., 2007; Alomari, 2009) or found as an isolated abnormality in an otherwise normal...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834cef46
更新日期:2012-01-01 00:00:00
abstract::In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disru...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
abstract::Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3283520539
更新日期:2012-07-01 00:00:00
abstract::We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Bec...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199810000-00003
更新日期:1998-10-01 00:00:00
abstract::We present two siblings with oculoauriculovertebral spectrum phenotype (Goldenhar syndrome) and an unbalanced translocation t(5;8)(p15.31;p23.1) resulting in monosomy for the region 5p15.31 to 5pter and trisomy for 8p23.2 to 8pter region. The father was a carrier of the balanced rearrangement 46,XY,t(5;8)(p15.31;8p23....
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000126138.37196.26
更新日期:2004-07-01 00:00:00
abstract::We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonat...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199804000-00005
更新日期:1998-04-01 00:00:00
abstract::Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reporte...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the bioche...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/MCD.0b013e3282fdcc70
更新日期:2008-10-01 00:00:00
abstract::We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia o...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract::The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46,XX, der 18,t(6;18)(pter p24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). Al...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-04-01 00:00:00
abstract::We present a 30 week old male fetus who had a very interesting malformation complex which can not be explained by teratogenic or hereditary diseases. The aim of this paper is to discuss this complicated entity and compare it with other reported cases. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00012
更新日期:2001-01-01 00:00:00
abstract::We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypopla...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200101000-00001
更新日期:2001-01-01 00:00:00
abstract::Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in th...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199710000-00004
更新日期:1997-10-01 00:00:00
abstract::The trisomy 8 mosaic syndrome may present in many different ways. We present a rare hair anomaly in a patient with this syndrome. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1996-07-01 00:00:00
abstract::A female infant with caudal regression syndrome and annular pancreas is described. This is the first time this association appears to have been described. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200009040-00014
更新日期:2000-10-01 00:00:00
abstract::Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behavio...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200510000-00004
更新日期:2005-10-01 00:00:00
abstract::We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spell...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200201000-00004
更新日期:2002-01-01 00:00:00
abstract::We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and th...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-199604000-00002
更新日期:1996-04-01 00:00:00
abstract::Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was p...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834116ae
更新日期:2011-07-01 00:00:00
abstract::We report on two brothers with short stature, severe developmental delay and unusual appearance. Several conditions including the Russell-Silver, Dubowitz, Floating-Harbour and Cockayne syndromes were considered in the differential diagnosis, but subsequently rejected. These two cases are likely to represent a new aut...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200104000-00007
更新日期:2001-04-01 00:00:00
abstract::Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009040-00004
更新日期:2000-10-01 00:00:00
abstract::In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very sim...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199601000-00008
更新日期:1996-01-01 00:00:00
abstract::We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
abstract::We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/01.mcd.0000198932.09330.33
更新日期:2006-10-01 00:00:00
abstract::This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiologi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1999-10-01 00:00:00
abstract::We report a familial case of velocardiofacial syndrome (VCFS) with polymicrogyria to provide further support for the association of disorders of cortical development with del(22q11) syndromes. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009030-00008
更新日期:2000-07-01 00:00:00
abstract::The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are freq...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000099
更新日期:2016-01-01 00:00:00
abstract::Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200304000-00004
更新日期:2003-04-01 00:00:00
abstract::Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricul...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000198925.94082.ea
更新日期:2006-04-01 00:00:00