CT-Based Anatomical Evaluation of Pre-Vertebral Structures With Respect to Vertebral Body Using a Clock-Face Analogy.

Study Design: Retrospective Chart and CT Scan Review.

Objective: To define the relationship of the pre-vertebral structures for each level to assist in easier intraoperative visualization.

Summary Of Background Data: Vascular and visceral injuries from pedicle screws are well-known.

Minimally Invasive Surgery in Patients With Adolescent Idiopathic Scoliosis: Is it Better than the Standard Approach? A 2-Year Follow-up Study.

Study Design: This is a retrospective controlled study.

Objective: To compare the safety and efficacy of minimally invasive surgery (MIS) for the surgical management of adolescent idiopathic scoliosis (AIS) to the standard open posterior approach (PSF).

Summary Of Background Data: MIS approaches offer the potential to reduce soft-tissue trauma, intraoperative blood loss, and surgical-site infection.

Pedicle screws adjacent to the great vessels or viscera: a study of 2132 pedicle screws in pediatric spine deformity.

Study Design: A retrospective study.

Objective: To determine the incidence of pedicle screws close to vital structures and to identify patient or curve characteristics that increase the risk of screw misplacement.

Summary And Background: Most pedicle screw misplacements are asymptomatic, thus they are frequently undetected.

Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes.

Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band-like ICC with abnormal gyral pattern and a negative serology for TORCH infections.

Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway.

We report on a patient with Adams-Oliver syndrome, a condition characterized by scalp and limb defects. In addition we noted in our patient a significant delay in the bone age and an abnormal distal phalanx in one of her fingers manifesting clinically as a broad finger tip. Both these features hitherto unreported add to the phenotypic spectrum of the condition.

Eventration of the diaphragm and associations.

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.

A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.

We treated a 5-year-old boy, in our hospital in south India, who had a history of recurrent respiratory infections, tuberculosis, and severe varicella infection. He was short in build and a radiological examination revealed evidence of spondylometaphyseal dysplasia. Investigation of the immune system was suggestive of compromised cellular immunity.

Yunis Varon syndrome.

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.

Larsen syndrome--lethal variety.

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.

Branchio-oculo-facial syndrome.

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.

Langer-giedion syndrome with renal cyst.

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.

Kabuki make-up syndrome.

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.

Sirenomelia with radial dysplasia.

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.