A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.

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：: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：: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：:We report a familial case of velocardiofacial syndrome (VCFS) with polymicrogyria to provide further support for the association of disorders of cortical development with del(22q11) syndromes. ...

journal_title：Clinical dysmorphology

authors： Worthington S,Turner A,Elber J,Andrews PI

更新日期：2000-07-01 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：:Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a...

journal_title：Clinical dysmorphology

authors： Bağci G,Cetin GO,Semerci N,Toruner GA,Cinbiş M

更新日期：2012-01-01 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：: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：: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：:We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition. ...

journal_title：Clinical dysmorphology

authors： Greenhalgh KL,Newbury-Ecob RA,Lunt PW,Dolling CL,Hargreaves H,Smithson SF

更新日期：2003-01-01 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：: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：: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：: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：: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 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 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：: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：:Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche and 83% of pubertal males showed Tanner III pubic hair development prio...

journal_title：Clinical dysmorphology

authors： Cherniske EM,Sadler LS,Schwartz D,Carpenter TO,Pober BR

更新日期：1999-04-01 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 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 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：: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：: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：: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：: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：:Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of m...

journal_title：Clinical dysmorphology

authors： Slavotinek A,Clayton-Smith J,Kerr B

更新日期：1999-07-01 00:00:00

abstract：:In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very sim...

journal_title：Clinical dysmorphology

authors： Aymé S,Philip N

更新日期：1996-01-01 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：: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