Yunis-Varon syndrome: the first case of German origin.

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 a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge. ...

journal_title：Clinical dysmorphology

authors： Phadke SR,Girisha KM,Dalal A

更新日期：2006-10-01 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：: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：: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：: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：:The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the g...

journal_title：Clinical dysmorphology

authors： Gazdagh GE,Wang C,McGowan R,Tobias ES,Ahmed SF,DDD Study.

更新日期：2019-07-01 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：: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

authors： Rosser EM,Mann NP,Hall CM,Winter RM

更新日期：1996-04-01 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 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 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

authors： Cerrahoğlu K,Izci Y,Apaydin O,Torun T

更新日期：2004-01-01 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：: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：:A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine ...

journal_title：Clinical dysmorphology

authors： Pandya NA,Jani BR

更新日期：2000-04-01 00:00:00

abstract：:We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features repr...

journal_title：Clinical dysmorphology

authors： Kajantie E,Somer M

更新日期：2004-07-01 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

authors： Mandal K,Phadke SR,Kalita J

更新日期：2008-04-01 00:00:00

abstract：:Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The geneti...

journal_title：Clinical dysmorphology

authors： Gana S,Panizzon M,Fongaro D,Selicorni A,Memo L,Scandurra V,Vannucci C,Bigozzi M,Scordo MR

更新日期：2011-01-01 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：: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：: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：: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：: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：: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

authors： Gregersen N

更新日期：2006-01-01 00:00:00

abstract：:We report a boy who presented with mild facial dysmorphism, pectus excavatum, bilateral brachydactyly and ulnar deviation of both index fingers. Radiological examination of the hands showed abnormal proximal phalanges of the second digits. This case differs from the classical Catel-Manzke syndrome in having isolated h...

journal_title：Clinical dysmorphology

authors： Puri RD,Phadke SR

更新日期：2003-10-01 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：: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：:Supernumerary nostril is an extremely rare congenital anomaly. It can be unilateral or bilateral and it sometimes occurs in association with other congenital abnormalities. We describe a newborn infant with bilateral supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus, an association ...

journal_title：Clinical dysmorphology

authors： Numanoglu V,Ermis B,Dursun A,Battal F,Ornek Z,Dogan SM,Ugur B

更新日期：2007-10-01 00:00:00

abstract：:Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the majority of affected...

journal_title：Clinical dysmorphology

authors： Jezela-Stanek A,Pokora P,Młynek M,Smyk M,Ziemkiewicz K,Różdżyńska-Świątkowska A,Tylki-Szymańska A

更新日期：2020-12-07 00:00:00