Fetus with unbalanced translocation involving chromosomes 2 and 11.

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：: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

authors： Schrander-Stumpel C,Havenith M,Linden EV,Maertzdorf W,Offermans J,van der Harten J

更新日期：1994-10-01 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：: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：: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：: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

authors： Ribeiro LA,Bertolacini CD,Quiezi RG,Richieri-Costa A

更新日期：2011-07-01 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

authors： Morava E,Jackson KE,Andersson HC

更新日期：2004-04-01 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：: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：: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

authors： Wallerstein R,Shih LY,Fong MH,Zheng S,Poon E

更新日期：2005-04-01 00:00:00

abstract：:We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who ...

journal_title：Clinical dysmorphology

authors： Clayton-Smith J,Krajewska-Walasek M,Fryer A,Donnai D

更新日期：1994-04-01 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：:Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reporte...

journal_title：Clinical dysmorphology

authors： Gibbs ML,Wilkie AO,Winter RM,Taylor D,Baraitser M

更新日期：1994-04-01 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

authors： Breckpot J,Thienpont B,Vanhole C,Van Rossem E,Van Schoubroeck D,Fryns JP,Lagae L,Buyse G,Devriendt K

更新日期：2009-10-01 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 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

authors： Smith A,Leask K,Tomlin P,Donnai D

更新日期：2008-07-01 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：: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：: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：: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

authors： Semerci CN,Bebitoglu I,Kaçar A,Yurttagül S,Erçakmak S,Ertoy D,Ozaltin F,Balci S

更新日期：2001-01-01 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 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：: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 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

authors： Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJ

更新日期：2006-10-01 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

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 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

authors： al-Gazali LI,Bakalinova D

更新日期：1998-07-01 00:00:00

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

journal_title：Clinical dysmorphology

authors： Datta H,Datta S

更新日期：2003-01-01 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：:We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed ...

journal_title：Clinical dysmorphology

authors： Maclean K,Ambler G,Flaherty M,Kozlowski K,Adès LC

更新日期：2002-10-01 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

authors： De Paepe A,Loeys B,Devriendt K,Fryns JP

更新日期：1999-07-01 00:00:00