Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The oto-vertebral syndrome is a rare combination of malformations of the ears, spinal anomalies, and congenital heart disease. The syndrome appears to be caused by early embryonic exogenous damage during the 6th or 7th week of embryonic development. The case is reported of a 28-year-old man with bilateral aplasia of the external ear, bilateral aplasia of the ear canal, hypoplasia of the mandibula, severe thoracic scoliosis, and ventricular septal defect with pulmonary hypertension. He was admitted with dyspnea on exertion, syncope, and severe cyanosis. Cardiac catheterization revealed severe pulmonary hypertension with moderate right-to-left and slightly left-to-right shunt (Eisenmenger syndrome). Right and left ventricular function, as evaluated by angiocardiography, was slightly reduced. Because of the severe hemodynamic alterations, symptomatic therapy with digitalis, repeated venesection, and anticoagulation was initiated.
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PMID:[The oto-vertebral syndrome]. 70 8

We report the case of a 9-years-old girl showing at examination facial asymmetry, right ear with II degree dysplasy and degree III in the left ear (according Marx classification), cleft palate, renal agenesy, scoliosis and hypoplasy of the left thumb. Otoscopically both external ear canals looked very narrow and very upright positioned. The drumhead image recalling that of chronic mucoid effusion. The measurement of hearing through pure-tone audiometry, PEATC, and tympanometry resulted in a pattern of bilateral transmissive pantonal hearing impairment accounting for 50-60 dB. Scoliosis was due either to bars or hemivertebrae or even to an atlas occipitalization. Chromosoma caryotype was normal.
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PMID:[Goldenhar syndrome: a polymalformation syndrome with conductive hearing loss]. 1082 94

Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.
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PMID:Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. 1142 60

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities. Restrictive lung disease may be associated with the severe scoliosis and thoracic cage abnormalities in this syndrome. We describe a child with Beals-Hecht syndrome and review the literature.
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PMID:Beals-Hecht syndrome. 1214 83

Summary Microtia is a kind of malformation affecting the development of the external ear and middle ear. In China, researches have pointed out that the incidence of microtia was 3.06 per 10 000 people. About 40% of patients with microtia were identified with other systemic malformation, and the commom complications included congenital heart disease, scoliosis, anophthalmia, cleft palate, facial asymmetry, facial asymmetry, etc. Of which, the prevalence of microtia with congenital heart disease was 18.5%, and it was 7% of patients with scoliosis. It is very rare for patients of microtia combined with multi-malformations. In this study, we reported a case of familial microtia combined with tetralogy of Fallot and scoliosis, and undertook a systematic review of the literature.
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PMID:[Case report of familial microtia combined with tetralogy of Fallot and scoliosis and literature review]. 3144 99