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_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Semerci CN,Bebitoglu I,Kaçar A,Yurttagül S,Erçakmak S,Ertoy D,Ozaltin F,Balci Sdoi
10.1097/00019605-200101000-00012subject
Has Abstractpub_date
2001-01-01 00:00:00pages
57-60issue
1eissn
0962-8827issn
1473-5717journal_volume
10pub_type
杂志文章abstract::Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, b...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009010-00002
更新日期:2000-01-01 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::This case report describes an unusual combination of birth defects in a black South African child presenting with colon atresia, facial symmetry due to facial microsomia and brain abnormalities. The suspected aetiology is thought to be vascular disruption in the late embryonic period. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000175604.03221.ad
更新日期:2006-01-01 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::Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000080
更新日期:2015-04-01 00:00:00
abstract::We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 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::We report a female infant with 3-4 syndactyly of the fingers and postaxial polydactyly of all four limbs. She was large at birth and died at the age of 6 months. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1996-10-01 00:00:00
abstract::Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000228426.97284.ff
更新日期:2007-01-01 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::The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognat...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3280464ff6
更新日期:2007-04-01 00:00:00
abstract::Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32832a9e62
更新日期:2009-10-01 00:00:00
abstract::We report a child with osteodysplastic primordial dwarfism type II. The literature is reviewed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1995-07-01 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::Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000235
更新日期:2018-10-01 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::We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital s...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009010-00012
更新日期:2000-01-01 00:00:00
abstract::The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children. ...
journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200204000-00017
更新日期:2002-04-01 00:00:00
abstract::A 4-year-old Italian child with the association of a solitary median maxillary central incisor, growth hormone deficiency, Duane retraction syndrome and a duplicated thumb phalanx is described. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200304000-00014
更新日期:2003-04-01 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::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::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_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200110000-00005
更新日期:2001-10-01 00:00:00
abstract::Among the findings associated with the human Retinoic Acid Embryopathy are hindbrain defects including the Arnold-Chiari malformation. The human Arnold-Chiari malformation (ACM) is a malformation complex where the cardinal feature is herniation of the caudal hindbrain into the vertebral column; it is frequently accomp...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract::We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-200504000-00006
更新日期:2005-04-01 00:00:00
abstract::18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on ver...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328343b9b9
更新日期:2011-07-01 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 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::We report on a 12-month-old boy with pre and post-natal growth retardation, triangular face and mild psychomotor retardation. Karyotyping revealed a supernumerary marker chromosome (SMC) in 36% of cells. Using fluorescence in situ hybridization and BAC clones, the supernumerary marker chromosome was found to be a high...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000181605.55382.9a
更新日期:2006-01-01 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