Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect.

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

authors： Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB

更新日期：2006-07-01 00:00:00

abstract：:Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant...

journal_title：Clinical dysmorphology

authors： Vendramini-Pittoli S,Kokitsu-Nakata NM

更新日期：2009-04-01 00:00:00

abstract：:Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as obse...

journal_title：Clinical dysmorphology

authors： García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garcia

更新日期：2011-01-01 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

authors： Morava E,Jackson KE,Andersson HC

更新日期：2004-04-01 00:00:00

abstract：:GATA zinc finger domain-containing 2B (GATAD2B) encodes p66beta, a subunit of transcription repressor complex methyl-CpG-binding protein-1 histone deacetylase complex/nucleosome remodelling and deacetylase, and mediates gene silencing. Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dom...

journal_title：Clinical dysmorphology

authors： Kaur P,Mishra S,Rajesh SM,Girisha KM,Shukla A

更新日期：2019-10-01 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

authors： Toriello HV,Lemire EG

更新日期：2002-01-01 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

authors： Radhakrishnan P,Moirangthem A,Nayak SS,Shukla A,Mathew M,Girisha KM

更新日期：2019-01-01 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

authors： Josifova DJ,Patton MA,Marks K

更新日期：2004-07-01 00:00:00

abstract：:We report a child with osteodysplastic primordial dwarfism type II. The literature is reviewed. ...

journal_title：Clinical dysmorphology

authors： al Gazali LI,Hamada M,Lytle W

更新日期：1995-07-01 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

authors： Dallapiccola B,Digilio MC,Zatterale A,Galeone R,Capolino R,Mingarelli R

更新日期：2009-07-01 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

authors： Faivre L,Cormier-Daire V,Geneviève D,Pinto G,Goulet O,Munnich A,Maroteaux P,Le Merrer M

更新日期：2001-07-01 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

authors： Innes AM,Lowry RB

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

authors： Parentin F,Perissutti P

更新日期：2003-04-01 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

authors： Baraitser M,Stewart F,Winter RM,Hall CM,Herman S,Nevin NC

更新日期：1997-04-01 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

authors： Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

更新日期：2005-07-01 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

authors： Morin G,Villemain L,Baumann C,Mathieu M,Blanc N,Verloes A

更新日期：2003-10-01 00:00:00

abstract：:Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndr...

journal_title：Clinical dysmorphology

authors： Brunetti-Pierri N,Seidel GF,Levy ML,Reid Sutton V

更新日期：2007-07-01 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

authors： Bankier A,Keith CG,Temple IK

更新日期：1995-10-01 00:00:00

abstract：:A baby with 'apple peel' jejunal atresia and limb abnormalities is described. The literature on 'apple peel' atresia is reviewed and the possible aetiology is discussed. ...

journal_title：Clinical dysmorphology

authors： Cook JA,Bennett C

更新日期：1995-01-01 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

authors： Guion-Almeida ML,Kokitsu-Nakata NM,Richieri-Costa A

更新日期：2000-10-01 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

authors： Fryns JP,de Smet L

更新日期：1994-10-01 00:00:00

abstract：:An unusual case of a female infant with Catel-Manzke syndrome is presented. Additional features not previously reported include three accessory ossicles at the bases or associated with the proximal phalanx of the index, middle, ring and little fingers bilaterally. There are also numerous bony abnormalities in both fee...

journal_title：Clinical dysmorphology

authors： Clarkson JH,Homfray T,Heron CW,Moss AL

更新日期：2004-10-01 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

authors： Walpole IR,Parry T,Goldblatt J

更新日期：1999-10-01 00:00:00

abstract：:We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on ov...

journal_title：Clinical dysmorphology

authors： Kajantie E,Ammälä P,Salonen R

更新日期：2002-10-01 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

authors： Eccles DM,Moore IE,Cook S,Griffin DR,Chitty L,Hall CM,Temple IK

更新日期：1994-04-01 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

authors： Rittinger O,Weiss-Wichert P,Hasenöhrl G

更新日期：1999-10-01 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

authors： Mariannejensen L,Kirchhoff M

更新日期：2005-10-01 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

authors： Brueggemann FB,Bartsch O

更新日期：2016-04-01 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

authors： Vergara P,Digilio MC,De Zorzi A,Di Carlo D,Capolino R,Rimini A,Pelegrini M,Calabro R,Marino B

更新日期：2006-04-01 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

authors： Irving MD,Chitty LS,Mansour S,Hall CM

更新日期：2008-10-01 00:00:00