Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.

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：: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：:Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in th...

journal_title：Clinical dysmorphology

authors： Horn D,Müller D,Thiele H,Kunze J

更新日期：1997-10-01 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 a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retard...

journal_title：Clinical dysmorphology

authors： Slavotinek AM,Lacbawan F

更新日期：2003-07-01 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：:A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrom...

journal_title：Clinical dysmorphology

authors： Seller MJ,Mohammed S,Russell J,Ogilvie C

更新日期：2002-04-01 00:00:00

abstract：:Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, b...

journal_title：Clinical dysmorphology

authors： Plomp AS,Baraitser M,Slaney SF,Winter RM

更新日期：2000-01-01 00:00:00

abstract：:Kohlschutter syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. We report a new family with two affected siblings. ...

journal_title：Clinical dysmorphology

authors： Donnai D,Tomlin PI,Winter RM

更新日期：2005-07-01 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：: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：:The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children. ...

journal_title：Clinical dysmorphology

authors： Innes AM,Lowry RB

更新日期：2002-04-01 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：: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：: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：:Among the findings associated with the human Retinoic Acid Embryopathy are hindbrain defects including the Arnold-Chiari malformation. The human Arnold-Chiari malformation (ACM) is a malformation complex where the cardinal feature is herniation of the caudal hindbrain into the vertebral column; it is frequently accomp...

journal_title：Clinical dysmorphology

authors： Alles AJ,Sulik KK

更新日期：1992-10-01 00:00:00

abstract：:The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are freq...

journal_title：Clinical dysmorphology

authors： McDermott JH,Byers H,Clayton-Smith J

更新日期：2016-01-01 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：: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：: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：: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：: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：:Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...

journal_title：Clinical dysmorphology

authors： McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

更新日期：2018-10-01 00:00:00

abstract：:The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...

journal_title：Clinical dysmorphology

authors： Rabe H,Brune T,Rossi R,Steinhorst V,Jorch G,Horst J,Wittwer B

更新日期：1996-07-01 00:00:00

abstract：:The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognat...

journal_title：Clinical dysmorphology

authors： Golbert MB,Dewes LO,Philipsen VR,Wachholz RS,Deutschendorf C,Leite JC

更新日期：2007-04-01 00:00:00

abstract：:A Japanese boy with a hearing deficit, cataracts, mental retardation, and brachycephaly without craniosynostosis is described. We believe that this patient represents a variant of the Fine-Lubinsky syndrome, and is the first report from a racial group other than Caucasian. ...

journal_title：Clinical dysmorphology

authors： Nakane T,Mizobe N,Hayashibe H,Nakazawa S

更新日期：2002-07-01 00:00:00

abstract：:Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández ...

journal_title：Clinical dysmorphology

authors： Bowdin S,Phelan E,Watson R,McCreery KM,Reardon W

更新日期：2007-01-01 00:00:00

abstract：:We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed. ...

journal_title：Clinical dysmorphology

authors： Eccles DM,Moore IE,Cook S,Griffin DR,Chitty L,Hall CM,Temple IK

更新日期：1994-04-01 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 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