Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot.

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

authors： Karaer K,Yuksel Z,Ichkou A,Calisir C,Attié-Bitach T

更新日期：2015-04-01 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

authors： Hoffman HM,Bastian JF,Bird LM

更新日期：2001-01-01 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

authors： Barnicoat A,Salman M,Chitty L,Baraitser M

更新日期：1996-10-01 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

authors： ten Berg K,Lindhout D

更新日期：2002-07-01 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

authors： Koshy B,Mandal K,Srivastava VM,Loius PT,Danda S

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

authors： Lemire EG,Stoeber GP,Anselmo M,Lowry RB

更新日期：2001-04-01 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

authors： Crisponi G,Porcu C,Piu ME

更新日期：1997-01-01 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

authors： Morton JE,Kilby MD,Rushton I

更新日期：1998-04-01 00:00:00

abstract：:Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable simi...

journal_title：Clinical dysmorphology

authors： Reardon W,Winter RM,Smith LT,Lake BD,Rossiter M,Baraitser M

更新日期：1995-01-01 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

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

更新日期：2008-10-01 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

authors： Honey EM,van Rensburg M,Knoll DP,Mienie LJ,van de Werke I,Beighton P

更新日期：2003-04-01 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

authors： Brueggemann FB,Bartsch O

更新日期：2016-04-01 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

authors： Rafati M,Seyyedaboutorabi E,Brujerdi R,Moossavi S,Ghaffari SR

更新日期：2012-07-01 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

authors： Romeo MG,Nicoletti MC,Saporito A,Cilauro S,Romeo DM,Smilari P

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

authors： Mariannejensen L,Kirchhoff M

更新日期：2005-10-01 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

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：: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

authors： Wartiovaara K,Paavola P,Suvanto P,Paulin L,Saarma M,Peltonen L,Sariola H

更新日期：1997-07-01 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

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

更新日期：1999-10-01 00:00:00

abstract：:Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we d...

journal_title：Clinical dysmorphology

authors： Paoloni-Giacobino A,Lespinasse J

更新日期：2007-01-01 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：: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

authors： Porteous ME,Wright C,Smith D,Burn J

更新日期：1993-04-01 00:00:00

abstract：:A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...

journal_title：Clinical dysmorphology

authors： Datta H,Datta S

更新日期：2003-01-01 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

authors： Temtamy SA,Meguid NA,Ismail SI,Ramzy MI

更新日期：1998-10-01 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：: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

authors： Hastings R,Steward C,Tsai-Goodman B,Newbury-Ecob R

更新日期：2009-10-01 00:00:00

abstract：:Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is ver...

journal_title：Clinical dysmorphology

authors： Canham NL,Holder SE

更新日期：2008-10-01 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

authors： Seller MJ,Mazzaschi R,Ogilvie CM,Mohammed S

更新日期：2004-01-01 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：:We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may ...

journal_title：Clinical dysmorphology

authors： al Gazali LI,al Talabani J,Mosawi A,Lytle W

更新日期：1994-07-01 00:00:00

abstract：:This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome. ...

journal_title：Clinical dysmorphology

authors： Canham NL

更新日期：2006-07-01 00:00:00