Abstract:
:We report two unrelated children with a new syndrome consisting of polydactyly and tibial aplasia in the lower limbs. severe brachyphalangy in the hands, malformed ears and a micropenis.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Baraitser M,Stewart F,Winter RM,Hall CM,Herman S,Nevin NCsubject
Has Abstractpub_date
1997-04-01 00:00:00pages
111-21issue
2eissn
0962-8827issn
1473-5717journal_volume
6pub_type
杂志文章abstract::We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma. The birth of an affected offspring suggests that this syndrome is likely to have autosomal dominant inheritance. The facial appe...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199510000-00005
更新日期:1995-10-01 00:00:00
abstract::Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. We ascertained three unrelated famili...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000248
更新日期:2019-01-01 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 present two patients with congenital anterolateral bowing of the tibia with polydactyly who had, in addition, cerebral malformations including agenesis of the corpus callosum and a large cerebral cyst. We discuss phenotypic overlap with the acrocallosal syndrome. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32832d06d7
更新日期:2009-10-01 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::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::Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We r...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32801472cf
更新日期:2007-04-01 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::In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-200310000-00005
更新日期:2003-10-01 00:00:00
abstract::We report two patients, one with sternal cleft, haemangiomas, supraumbilical midline raphe and the other with a sternal cleft, haemangiomas, coarctation of the aorta with a right aortic arch. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009020-00005
更新日期:2000-04-01 00:00:00
abstract::Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the majority of affected...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000344
更新日期:2020-12-07 00:00:00
abstract::We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00
abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200301000-00013
更新日期:2003-01-01 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::Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a possible cause for this condition. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
abstract::Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inher...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328302f0c4
更新日期:2008-07-01 00:00:00
abstract::The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000117
更新日期:2016-04-01 00:00:00
abstract::Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200401000-00006
更新日期:2004-01-01 00:00:00
abstract::The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200107000-00005
更新日期:2001-07-01 00:00:00
abstract::We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these ch...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199807000-00004
更新日期:1998-07-01 00:00:00
abstract::Nerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of t...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00003
更新日期:1997-07-01 00:00:00
abstract::Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3282f5280f
更新日期:2008-04-01 00:00:00
abstract::We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients p...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1995-04-01 00:00:00
abstract::An 11-year-old boy is described who was born with a poorly developed right foot. At 16 weeks gestation his mother had had amniocentesis without direct ultrasound guidance. After the insertion of the amniocentesis needle, she felt strong abdominal resistance, which disappeared with slight withdrawal of the needle. Then...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00013
更新日期:1997-07-01 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 case of Schinzel-Giedion syndrome, a rare malformation syndrome with a life expectancy of less than 2 years is described. Features present in this and previous cases are discussed. The association of agenesis of the corpus callosum with the Arnold-Chiari malformation found in this patient has not previously been des...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1999-10-01 00:00:00
abstract::We present the case of a 17-year-old boy with bilateral tibial hypoplasia and associated split hand and atrial septal defects. These have been reported previously to occur together by other investigators. There were no chromosomal abnormalities and the parents were non-consanguineous. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200401000-00016
更新日期:2004-01-01 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::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