phenylephrine-hydrochloride and Scoliosis

Anesthesiologists have the privilege and challenge of providing care for an extremely diverse population of patients, at times in urgent or emergent situations. We present a case of a 31-year-old woman with Pierre Robin sequence, severe juvenile scoliosis, and respiratory failure who underwent successful awake nasal fiberoptic intubation for tracheostomy at an adult tertiary care medical center. Familiarity with patient conditions infrequently encountered within our practice, as well as adherence to practice guidelines, proved essential to providing our patient with the safest care possible.

Topics: Adult; Anesthesia, General; Anesthetics; Female; Fiber Optic Technology; Humans; Intubation, Intratracheal; Nose; Pierre Robin Syndrome; Respiratory Insufficiency; Scoliosis; Tracheostomy

Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.

Topics: Body Height; Child; Dwarfism; Female; Glycosaminoglycans; Human Growth Hormone; Humans; Nose; Radiography; Scoliosis; Treatment Failure

We report on a child with frontonasal malformation (FNM) and cloacal exstrophy, a combination of findings that have not been reported previously. In FNM and cloacal exstrophy, associated malformations are rare. FNM and cloacal exstrophy both represent abnormalities of the development of the midline field; this combination of anomalies in this patient suggests an impairment of caudal and cranial midline development during blastogenesis.

Topics: Abnormalities, Multiple; Cervix Uteri; Cloaca; Female; Follow-Up Studies; Humans; Infant, Newborn; Magnetic Resonance Imaging; Nose; Radiography; Scoliosis; Spine; Uterus; Vagina

A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowledge this is the first report of trisomy for this specific segment of 2q and only the sixth case of de novo direct duplication of 2q, one of which was mosaic. Clinical features include epicanthus, clinodactyly, scoliosis, broad, flat nasal bridge, thin upper lip, long philtrum, and short neck.

Topics: Abnormalities, Multiple; Adult; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 2; Eyelids; Female; Humans; Intellectual Disability; Nose; Scoliosis; Trisomy

A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.

Topics: Abnormalities, Multiple; Adult; Epiphyses; Female; Finger Joint; Fingers; Hair; Humans; Nose; Polycystic Ovary Syndrome; Scoliosis; Sternum; Syndrome

These are preliminary observations of the introduction of a new technique of noninvasive positive pressure respiratory support for patients with subacute or chronic respiratory failure. Clinical situations where intubation or tracheostomy may have been performed were managed by intermittent positive pressure ventilation via nasal access (NIPPV) with a CPAP mask, or a custom constructed Vel-Foam nose piece. Four patients were managed at home with the use of portable volume ventilators. One patient employed the technique while hospitalized with subacute respiratory failure. Two patients, otherwise dependent on mouth intermittent positive pressure ventilation (MIPPV) 24 hours a day, received necessary dental care with NIPPV support. In a large population with a decade or more follow-up, MIPPV was shown to be an effective noninvasive technique to support respiration in patients with the most severe paralytic respiratory failure. Preliminary observations suggest that NIPPV may compare favorably with MIPPV and deserves more widespread study and application.

Topics: Adult; Female; Humans; Intermittent Positive-Pressure Breathing; Male; Multiple Sclerosis; Muscular Dystrophies; Nose; Positive-Pressure Respiration; Respiratory Insufficiency; Respiratory Paralysis; Scoliosis; Time Factors

Topics: Child, Preschool; Diagnosis, Differential; Facial Asymmetry; Facial Bones; Female; Follow-Up Studies; Goldenhar Syndrome; Hearing Loss, Conductive; Humans; Infant; Mandibulofacial Dysostosis; Nose; Orbit; Scoliosis

Topics: Adolescent; Adult; Aged; Body Height; Child; Child, Preschool; Female; Fingers; Genetic Variation; Hair; Humans; Kyphosis; Male; Nose; Pedigree; Phenotype; Scoliosis; Syndrome

Topics: Child; Humans; Infant; Kyphosis; Musculoskeletal System; Nose; Posture; Respiration; Scoliosis