Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

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

authors： Eggermann T,Krause-Plonka I,Wollmann HA,Zerres K,Dai G,Meyer E,Bartsch O

更新日期：2006-01-01 00:00:00

abstract：:An 11-year-old boy is described who was born with a poorly developed right foot. At 16 weeks gestation his mother had had amniocentesis without direct ultrasound guidance. After the insertion of the amniocentesis needle, she felt strong abdominal resistance, which disappeared with slight withdrawal of the needle. Then...

journal_title：Clinical dysmorphology

authors： Holmes LB

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：: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：: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：: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：: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：: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：: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：: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：: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：: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：: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

authors： Akita S,Kuratomi H,Abe K,Harada N,Mukae N,Niikawa N

更新日期：1993-01-01 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：: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

authors： Robinow M

更新日期：1993-07-01 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 a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cav...

journal_title：Clinical dysmorphology

authors： Derbent M,Orün UA,Varan B,Mercan S,Yilmaz Z,Sahin FI,Tokel K

更新日期：2005-01-01 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：: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：:Overgrowth syndromes with complex vascular anomalies pose a challenge for diagnosis and management. The purpose of this descriptive study is to present a cohort of patients with congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome, a distinct clinical phenotype characterized by a compl...

journal_title：Clinical dysmorphology

authors： Alomari AI

更新日期：2009-01-01 00:00:00

abstract：:A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identi...

journal_title：Clinical dysmorphology

authors： de Ravel TJ,Berkowitz DE,Wagner JM,Jenkins T

更新日期：1999-01-01 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：: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：: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

authors： Thomas ER,Wakeling EL,Goodman FR,Dickinson JC,Hall CM,Brady AF

更新日期：2006-04-01 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：:We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, cleft palate and mild sensorineural hearing loss in two siblings. The parents were unrelated. The patients' stature and intelligence were normal. We suggest that the inheritance is autosomal recessive. ...

journal_title：Clinical dysmorphology

authors： Balci S,Akcan B,Vargel I,Tümer C,Enacar A

更新日期：2004-04-01 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：:Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies. ...

journal_title：Clinical dysmorphology

authors： Guzzetta V,Lecora M,Rossi G,Berni Canani M,Andria G

更新日期：1996-04-01 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：:Congenital deficiency of the fibula is sometimes accompanied by femoral hypoplasia, genu valgum, patellar a/hypoplasia or dislocation, tibial bowing, foot deformity, and toe deficiency in the affected limb. 'Iliac horns' are bony projections extending posterolaterally from the ilium and considered to be pathognomonic ...

journal_title：Clinical dysmorphology

authors： Haga N,Lee K,Nakamura K,Okazaki Y,Mamada K,Kurokawa T

更新日期：1997-04-01 00:00:00