Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome

Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndromes that include adducted thumb as a cardinal feature such as Dundar Syndrome are few in the literature. This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that includes wasted build, hyperextensible, thin and translucent skin with atrophic scarring, severe congenital contractures of fingers and thumbs, club feet, severe kyphoscoliosis, joint instability, muscular hypotonia, and ocular involvement. Heart, kidney, and/or intestinal defects can also be observed. Up to date the syndrome is described in few families in the literature. Here we discuss the syndromes that include adducted thumb as a cardinal feature and also the differential diagnosis of the Dundar Syndrome according to the literature.status: publishe

PARTIAL TRISOMY 14q DUE TO MATERNAL t(4;14)(p16;q32) IN A DYSMORPHIC NEWBORN

Partial trisomy 14q due to maternal t(4;14)(p16;q32) in a dysmorphic newborn: Partial Trisomy 14q is a rare chromosomal disorder that mostly results from a parental translocation. We report here a newborn boy with partial trisomy 14q and dysmorphic features that are compatible with previously reported cases. Conventional cytogenetic analysis revealed an extra chromosomal segment at the end of the short arm of chromosome 4. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of these cytogenetic studies and the physical examination, this dysmorphic case was diagnosed as partial trisomy of 14q and his karyotype determined as 46 XY, der(4)t(4;14)(p16;q32) resulting from a balanced maternal translocation identified as 46,XX, t(4;14)(p16;q32)

Numerical simulation of the transition of a Newtonian fluid to a viscoplastic state in a turbulent flow

The non-isothermal turbulent flow and transition to a viscoplastic state of high-viscosity oil with physical and chemical properties depending on fluid temperature is numerically studied. The turbulence of fluid flow in a pipe is described using the Reynolds stress, Reynolds algebraic stress, and two-parameter isotropic models. The simulations show the boundaries of the region of the manifestation of Newtonian behavior and fluid transition to a viscoplastic state. The Reynolds stress model and the algebraic Reynolds stress model show significant anisotropy in the velocity fluctuation profiles of Newtonian and non-Newtonian fluids. The shift of the locus of maximal magnitudes of turbulent pulsations, Reynolds stress, and turbulent kinetic energy towards a flow core region is observed. The height of the zone with a completely stopped fluid is predicted and determined numerically. The appearance of a stagnation zone near the wall causes a significant decrease in wall friction and heat transfer due to a decrease in the environment temperature

SYNDROMES PRESENTING ADDUCTED THUMB WITH/WITHOUT CLUBFOOT AND DUNDAR SYNDROME

Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome: Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndromes that include adducted thumb as a cardinal feature such as Dundar Syndrome are few in the literature. This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that includes wasted build, hyperextensible, thin and translucent skin with atrophic scarring, severe congenital contractures of fingers and thumbs, club feet, severe kyphoscoliosis, joint instability, muscular hypotonia, and ocular involvement. Heart, kidney, and/or intestinal defects can also be observed. Up to date the syndrome is described in few families in the literature

A CASE WITH A RARE CHROMOSOMAL ABNORMALITY: ISOCHROMOSOME 18p

A case with a rare chromosomal abnormality: isochromosome 18p: Isochromosome 18p(i(18p)), is a rare chromosomal disorder that occurs once in about every 140.000 live births and affects males and females equally. Most of the cases are due to a de nova formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismus, low-set ears, small pinched up nose, small mouth, high palate and long philtrum, presenting a small metacentric chromosome. Besides the dysmorphic features she also has gastroesophageal reflux, spasticity, strabismus and specific brain MRI findings as dilatation of the right lateral ventricle trigonum occipital horn (colpocephaly), thinning of the corpus callosum especially of the posterior part and abnormality of the white matter myelinisation at the frontal and occipital region. Particularly the MR findings are rarely reported in the literature

A CASE WITH A RARE CHROMOSOMAL ABNORMALITY: ISOCHROMOSOME 18p

A case with a rare chromosomal abnormality: isochromosome 18p: Isochromosome 18p(i(18p)), is a rare chromosomal disorder that occurs once in about every 140.000 live births and affects males and females equally. Most of the cases are due to a de nova formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismus, low-set ears, small pinched up nose, small mouth, high palate and long philtrum, presenting a small metacentric chromosome. Besides the dysmorphic features she also has gastroesophageal reflux, spasticity, strabismus and specific brain MRI findings as dilatation of the right lateral ventricle trigonum occipital horn (colpocephaly), thinning of the corpus callosum especially of the posterior part and abnormality of the white matter myelinisation at the frontal and occipital region. Particularly the MR findings are rarely reported in the literature

PARTIAL TRISOMY 3q IN A CHILD WITH SACROCOCCYGEAL TERATOMA AND CORNELIA DE LANGE SYNDROME PHENOTYPE

Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype: Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange syndrome. Conventional cytogenetic analysis revealed a derivative chromosome 21. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of all these cytogenetic studies and the physical examinations, the diagnosis is partial 3q duplication