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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of Noonan syndrome are observed. The Noonan syndrome is a Turner-like syndrome with normal chromosomal constitution. Essential criteria in diagnosing the syndrome are the facial expression (hyper-telorisme, low-set and malformed ears, micrognathie, fish-like mouth). The short webbed neck and the cubitus valgus. These children are rather small and mental retardation can be present, especially in comparison with their siblings. Associated cardiac malformations occur in approximately 50% of the cases. We insist on audiologic findings. One case has a hearing impairment due to a malformation of the middle ear, recognised radiologically. The other has a deafness of perception type. Yet, the familial occurrence of last patient makes it doubtful whether this hearing loss can be linked to the Noonan-syndrome.
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PMID:[The Noonan syndrome]. 717 Sep 44

A case study of a female patient in which most of the fingernails and toenails and terminal phalanges of hands and feed were absent, together with retarded psychomotor development, minor mental retardation and seizures due to simple cerebral cyst, with bilateral deafness is presented. This association, similar to Coffin-Siris syndrome, is not found in the literature.
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PMID:[Absence of hypoplasia of fingernails and toenails and terminal phalanges of hands and feet (author's transl)]. 719 64

Eleven patients, 10 male, with classic hypertrophic obstructive cardiomyopathy and lentiginosis are described. Physical examination showed differences from the few previously reported cases in that (1) this condition was not confined to children; (2) mental retardation, sensorineural deafness and gonadal and somatic infantilism were either rare or absent; and (3) detailed family studies provided no evidence that this condition was inherited. Nine patients underwent cardiac catheterization and left ventricular angiography; all had left ventricular outflow obstruction and three had concomitant right ventricular outflow obstruction with a pressure gradient in excess of 100 mm Hg. Ten of the 11 patients were severely symptomatic, and 7, each with a left ventricular pressure gradient of more than 70 mm Hg, underwent successful septal myotomy/myectomy that resulted in marked symptomatic improvement that was maintained after long-term follow-up.
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PMID:Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. 719 5

Perinatal medicine concerns the period from delivery to the 1st 28 days of life; it includes maternal-fetal and neonatal medicine and the intervention of the specialist in internal medicine, obstetrics, and pediatrics. Currently, factors related to increased obstetrical, fetal or neonatal risk have been used to establish indices to aid the identification of the population more at risk of perinatal morbidity/mortality. A high risk newborn has been defined as presenting possible physical, intellecteual, or social problems which can negatively influence his or her normal development and/or learning abilities. Retrospective analyses conducted in Great Britain and in the U.S. showed that about 19% of the population falls into this category; the percentage is much higher in less industrialized countries. Modern technology can detect 70-80% of cases at risk of perintatal morbidity and mortality, and can intervene, even before delivery, with fetal intrauterine transfusion, fetal monitoring of the heart, and amniocentesis. Perinatology cannot exist without proper equipment and highly specialized personnel, which have been the major cause for the spectacular decrease in neonatal mortality experienced in many countries; still, neonatal mortality is about 4 times higher than general mortality. Many physicians consider family planning an integral part of any neonatal medical program. Several statistics show that 75% of anatomical or functional alterations are due to factors present before birth; such alterations can be epilepsy, mental retardation, deafness, blindness, or cerebral paralysis. Statistics for Mexico show the presence of about 600,000 individuals with serious and permanent problems due to sequelae of perinatal morbidity. Cause-effect relationships are extremely difficult to establish; the influence of socioeconomic factors, low birth weight, or reduced gestational age can be of paramount importance in influencing perinatal morbidity/mortality.
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PMID:[Obstetrics and perinatal medicine]. 725 Jul 15

Comparison of the mother-child interactions of deaf-child and hearing-child dyads showed an emphasis on control (instructions and commands) by mothers of deaf children. This finding is reminiscent of previous observations regarding the mother-child interactions of mentally retarded children. The maternal emphasis on control seen in both groups may be unrelated to either deafness or to mental deficiency; instead, it may represent a "normal" adaptation to the breakdown in reciprocal communication which is commonly (and unnecessarily) seen in both deafness and mental retardation.
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PMID:Childhood deafness and maternal control. 735 44

A male patient born to a mother who developed rubella during the tenth week of gestation presented a typical congenital rubella syndrome with mental retardation, neuro-sensory deafness, hypoplasia of the dental enamel and chorioretinitis. Hyperthyroidism occurred at the age of 3 10/12 years and was treated successfully with propylthiouracil for 4 years. The course was complicated by premature craniosynostosis and a craniectomy was performed at the age of 7 years. Overt diabetes mellitus developed at 17 years and was well controlled by insulin therapy. Histocompatilibity (HLA) antigens were A2, B8, B40. Diabetes mellitus and thyroid disorders have previously been reported after congenital rubella, and recently after congenital cytomegalovirus infection. Our patient had both endocrinopaties. It is possible that HLA B8 antigens might be responsible for increased susceptibility to rubella infection.
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PMID:Hyperthyroidism, diabetes mellitus and the congenital rubella syndrome. 736 31

A patient with X-chromosome-linked recessive Norrie's disease, characterized by retinal falciform fold, retinal detachment, repeated vitreous hemorrhage, and retrolental membrane formation, was observed from age 6 weeks. The patient showed the clinical progression from these early retinal and vitreous changes to the more typical retrolental vascularized detached retina. Pathologic examination showed normal retinal tissue. Two other male relatives showed the end stages of Norrie's disease with bilateral congenital blindness, with and without mental retardation and deafness. Vitreoretinal surgery prevented phthisis bulbi from occurring the operated eye but was unsuccessful in reattaching the contracted retina.
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PMID:Falciform fold, retinal detachment, and Norrie's disease. 739 60

A new case of Johanson-Blizzard's syndrome is reported. It concerns a boy born to consanguineous parents and who died at the age of 10 months from malnutrition. Anal imperforation, alar agenesia, hair anomalies, mental retardation and external pancreatic failure were associated. Neither deafness nor hypothyroidism appeared to be present. Autopsy revealed lipomatous hypoplasia of the exocrine pancreas, hitherto unobserved in this syndrome, and probably responsible for the external pancreatic failure noted in published cases. The variability within a given family of the Johanson-Blizzard malformative syndrome is illustrated by two other cases reported in the anamnesis, one involving a brother who had died earlier with cutaneous aplasia at the fontanella and lacrimal canal malposition and one involving a second cousin who presented with isolated anal imperforation.
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PMID:[Johanson-Blizzard's syndrome: another cause of pancreatic lipomatosis (author's transl)]. 746 79

A seven-year-old boy with mental retardation and congenital skeletal malformations in the thumbs and big toes developed recurrent lumps in the shoulder and interscapular region. The lumps subsided slowly but left severe stiffness in the affected areas. The first biopsy revealed oedema and a chronic inflammatory response with fibromyxoid proliferation of the soft tissue. A second biopsy revealed ossification of muscle and fascia. The patient is a typical case of fibrodysplasia ossificans progressiva, an autosomal dominant inherited disorder characterized by congenital skeletal malformations in toes and fingers and progressive ectopic ossification, often combined with alopecia, deafness and in rare cases mental retardation. The disorder leads to severe physical disability in young age and respiratory and nutritional problems. No effective treatment is known, but it is important to avoid exacerbating factors such as biopsy, operations and intramuscular injections.
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PMID:[Fibrodysplasia (myositis) ossificans progressiva]. 749 2

The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome. Aside from these four cardinal features, a wide variety of abnormalities of the nervous system, urinary tract and endocrine glands have been described in this syndrome. In this report, the clinical features of six patients with DIDMOAD syndrome are presented. All six patients had DM. Five of the six patients had DI, five OA and five displayed abnormal audiogram findings. In addition, two had goiter, two delayed puberty, one seizure and one mental retardation with depression attacks. Urinary tract dilatation was recorded in five patients. Four patients developed typical complications of DM. One of them had overt nephropathy and arthropathy despite the short duration of DM. In addition, this patient had diabetic retinopathy, which is considered to be rare in this syndrome.
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PMID:Various clinical aspects of DIDMOAD (Wolfram) syndrome. 750 61


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