الملخص
There are many kinds of orthodontic movements that make the clinical schedule a genuine test. With the appearance of the skeletal anchorage, it became more straightforward to take care of numerous issues, like anchorage, tipping, interruption among others. The reason for this article was to survey outright anchorage, including signs, implantation site, and any kind of orthodontic element
الملخص
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.
الموضوعات
Abnormalities, Multiple/diagnosis , Child , Diaphragmatic Eventration/diagnosis , Female , Follow-Up Studies , Humans , Male , Poland Syndrome/diagnosis , Radiography, Thoracic , Risk Factors , Tomography, X-Ray Computedالملخص
In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.
الموضوعات
Abnormalities, Multiple/diagnosis , Craniofacial Abnormalities/diagnostic imaging , Female , Fingers/abnormalities , Foot Deformities, Congenital/diagnostic imaging , Humans , Infant, Newborn , Syndromeالملخص
Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed.
الموضوعات
Abnormalities, Multiple/diagnosis , Collagen Diseases/congenital , Joint Dislocations/congenital , Face/abnormalities , Fatal Outcome , Humans , Infant, Newborn , Limb Deformities, Congenital/diagnosis , Male , Syndromeالملخص
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
الموضوعات
Adolescent , Branchio-Oto-Renal Syndrome/diagnosis , Child , Female , Genes, Dominant , Humans , Male , Phenotypeالملخص
Here it is reported a 4-year-old boy with Langer-Giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic features of TRP II, associated with multiple renal cysts hitherto unreported. This could be a new association in this syndrome that may serve to support the concept of contiguous gene syndrome in patients with TRP II.
الموضوعات
Child, Preschool , Humans , Kidney Diseases, Cystic/etiology , Langer-Giedion Syndrome/complications , Maleالملخص
Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.
الموضوعات
Abnormalities, Multiple/diagnosis , Child , Female , Humans , India , Intellectual Disability/diagnosis , Syndromeالملخص
Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.