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 spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Toriello HV,Lemire EGdoi
10.1097/00019605-200201000-00004subject
Has Abstractpub_date
2002-01-01 00:00:00pages
19-23issue
1eissn
0962-8827issn
1473-5717journal_volume
11pub_type
杂志文章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 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retard...
journal_title:Clinical dysmorphology
pub_type: 信件,评审
doi:10.1097/01.mcd.0000072160.33788.1f
更新日期:2003-07-01 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::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 history of the Robinow (fetal face) syndrome and the evolution of the phenotype are presented. Non-specific and syndrome-specific abnormalities are listed, discussed and illustrated. Existence of an autosomal dominant and an autosomal recessive type has been well documented. The two forms can be distinguished phen...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1993-07-01 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::Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper e...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200507000-00013
更新日期:2005-07-01 00:00:00
abstract::A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrom...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200204000-00007
更新日期:2002-04-01 00:00:00
abstract::The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple beni...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000194406.85052.de
更新日期:2006-04-01 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::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::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::Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short fi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32832a9e78
更新日期:2009-07-01 00:00:00
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::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::Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome associated with a paracentric inversion of chromosome 7 in a 2-year-old Japanese girl is reported. She had sparse and light-brown hair, bilateral cleft lip and palate, fused lower incisors, a pigmented skin lesion at the neck, accessory nipples, limited extensi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
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::We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200404000-00013
更新日期:2004-04-01 00:00:00
abstract::The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1996-07-01 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::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
abstract::We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stat...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220605.94413.bb
更新日期:2006-07-01 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::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::The purpose of this report is to describe a patient with a pattern of malformations very similar to those described by Antley and Bixler. They include craniosynostosis, midface hypoplasia with proptosis, ear anomalies, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulna...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-01-01 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::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::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 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