Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is the case of a 35-year old woman who suffers from a chronic form of spinal muscular atrophy and who has successfully completed four pregnancies between 1982 and 1987. After a short discussion of etiology, pathology, heredity and the differential diagnosis we describe the obstetric problems of our patient. The pregnancies were mainly aggravated by recurrent cystitis. In all the four deliveries the patient had to undergo cesarean section followed by severe lung problems. After the third pregnancy the patient had a nephrectomy cause of a pyonephrosis. We could not see an aggravation of the disease at it is described in some cases of Charcot-Marie-Tooth disease or polyneuritis. Three of the four children showed a striking muscular hypotonia post partum that disappeared soon after the neonatal period.
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PMID:[Pregnancy and labor in chronic anterior horn lesion]. 276 11

Two unrelated girls, aged 11 and 14 years, with clinical manifestations of Ehlers-Danlos syndrome (EDS) type VIB, characteristic facies, skeletal abnormalities, and other features are described. They had Marfanoid habitus with pectus excavatum; fragile, hyperextensible, and readily bruisable skin with widened, atrophic scars; recurrent hematomas; generalized joint laxity; hypotonia; scoliosis; and mild delay of gross motor development. Lysyl hydroxylase deficiency was ruled out in Patient 1. Parental consanguinity was present in Patient 2. They both had, in early childhood, down-slanting palpebral fissures, drooping lower eyelids, short nose, small mouth, and long philtrum. Facial features that persisted included thick eyebrows, hypertelorism, strabismus, blue sclerae, low-set, and slanted ears, hypoplastic columella, high-arched palate, and thin upper lip. They had tubular stenosis of the phalanges, metacarpals, and metatarsals; decreased physiological curvatures of the spinal column with tall vertebrae; and joint contractures including talipes equinovarus and progressive talipes valgus. Their hearing of high-pitched sounds was impaired. They had constipation and recurrent cystitis with an enlarged bladder. In view of these findings, we propose that these two girls represent a clinically recognizable subgroup of EDS type VIB.
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PMID:Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 1615 41