نتایج جستجو برای: clinodactyly

تعداد نتایج: 143  

2007
Li Han

Coordinated object manipulation is a fundamental problem in the study of multingered robotic hands. The conventional study has been focused on deriving control algorithms for nger joints to implement a speci ed object trajectory and recently more e ort has been put into the study of automatic object trajectory planning. This paper discusses how to plan large-scale object reorientation with nger...

2017
Zoe Papadopoulou Ioannis Papoulidis Stavros Sifakis Georgios Markopoulos Annalisa Vetro Angeliki-Maria Vlaikou Monica Ziegler Thomas Liehr Loretta Thomaidis Orsetta Zuffardi Maria Syrrou Kitsos George Emmanouil Manolakos

Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyl...

Journal: :Journal of medical genetics 1971
I K Temple P MacDowall M Baraitser D J Atherton

A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cere...

Journal: :Journal of medical genetics 1996
R A Newbury-Ecob R Leanage J A Raeburn I D Young

A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal def...

Journal: :American journal of medical genetics. Part A 2007
Juliana Forte Mazzeu Eliete Pardono Angela M Vianna-Morgante Antônio Richieri-Costa Chong Ae Kim Décio Brunoni Lúcia Martelli Carlos Eugênio F de Andrade Guilherme Colin Paulo A Otto

Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The freque...

2017
Binoy Shankar Euden Bhutia Dinesh Kumar Sunil Kishore Shakti Pad Das

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

Journal: :Circulation 1965
T R Rogers J W Hagstrom M A Engle

T HE FIRST descriptions of the trisomy-18 syndrome were in 1960 by Edwards,' Patau,2 and Smith3 and their associates. Although there was disagreement concerning which of the three pairs of chromosomes had an extra number, it now appears to be pair 18. The major malformations involve the skin, face, heart, and the central nervous, musculoskeletal, gastrointestinal, and urogenital systems. Overla...

2011
Zuhal Kirzioglu M. Semra Ozay Erturk Yildirim Erdogan

Seckel Syndrome (SS) is a rare form of primordial autosomal recessive dwarfism involving multiple malformations. The major characteristic features of SS are intrauterine and postnatal growth deficiency, severe microcephaly, craniofacial dysmorphism which includes characteristic ‘Bird-headed’ appearance, prominent nose, sloped forehead, receding jaw, low-set ears with hypoplastic lobules and lar...

2010
Enid Gilbert-Barness

Crucial morphogenetic processes during the blastogenesis period, which extends throughout the first 4 wk of development, from fertilization until the end of the gastrulation stage (days 27 to 28 postconception), can be altered and result in structural abnormalities, including patterns of multiple congenital anomalies (MCAs) arising from developmental field defects. Severe damage may cause death...

Journal: :Journal of medical genetics 2001
M P Hitchins P Stanier M A Preece G E Moore

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, a...

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