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

A new case of 9 p trisomy is reported in a 7-month-girl having typical morphological abnormalities and a mental retardation. During the examination, unusual ocular abnormalities were observed: pigmented linear dots of the mid peripheral retinal. Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed.
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PMID:[Unusual ocular anomaly in 9 p trisomy: retinal depigmentation]. 403 67

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
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PMID:An oculocerebrofacial syndrome. 500 10

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

In a study of congenital cataract in northern India, 76 patients (146 eyes) were evaluated for morphological patterns and etiology. Partial cataracts were found to be three times more common than total cataracts, the lamellar types being the most common among the partial cataracts. Hereditary cataracts had a 19.7% incidence. The majority (46.05%) of cases of congenital cataract were of idiopathic origin. A few cases were associated with metabolic disorders (Marfan's and Marchand's). Strabismus and nystagmus were the most common associated ocular abnormalities (28.94% and 15.79%), and mental retardation was the most commonly associated systemic abnormality. Rubella cataract was seen far less frequently than expected.
J Pediatr Ophthalmol Strabismus
PMID:Congenital cataract: etiology and morphology. 641 11

The visual outcome in cases of congenital cataract, managed both surgically and conservatively, is outlined. Final vision was better in cases with partial cataract, about 40% of whom attained 6/24 or better vision. With total cataracts, none could achieve this level of vision, with the majority (84%) attaining only 6/60 or less acuity. Visual results were also better in patients without nystagmus, 34% of whom attained 6/24 or better vision, while in cases with nystagmus, only 15% could come up to this level. Cataracts necessitating early surgery had a worse prognosis than cataracts necessitating late surgery. Visual results were best in cases with bilateral cataracts, partial cataracts, absence of associated ocular anomalies, the absence of nystagmus and in patients requiring later surgery. The important causes of nonimprovement of vision were amblyopia and after-cataract. Retinal detachment, retinopathy, and degenerative myopia were some of the less frequent causes of poor vision, while mental retardation was another important factor. Full cooperation from the parents is absolutely essential in the proper visual rehabilitation of the handicapped child.
J Pediatr Ophthalmol Strabismus
PMID:Congenital cataract: management and results. 664 86

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.
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PMID:A new X-linked multiple congenital anomalies/mental retardation syndrome. 671 4

A family with Moebius syndrome is presented. Neurological lesions in the affected members are various: complete VI and VII cranial nerves palsy associated with mental retardation in the proband; left convergent strabismus and mental retardation in a brother of the proband and only mental retardation in a sister of the proband. The brainstem auditory evoked potentials (B.A.E.P.), investigated in the proband and his affected sister, are abnormal. The presence of the anomaly after the 3rd wave is consistent with a disfunction of the auditory tract at a supranuclear level. The mental deficiency and the supranuclear site of the acoustic lesion are an indication for a more general involvement of C.N.S. than cranial nerve nuclei alone. Karyotype and dermatoglyphics of the three affected subjects were normal. The authors hypothesized the same disorganogenetic factor acting very early (4th-6th week of gestational age) on the metamerization process of limb buds mesoderm and brainstem gray matter.
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PMID:Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion. 672 8

Neurological prospective follow-up study of premature newborns must be carried out to determine the usefulness and efficacy of modern perinatal intensive care. Over the last 30 years an improvement in perinatal care has led to a dramatic reduction from 70% to 20%-40% in mortality rate among VLBW infants (less than or equal to 1500 g); while among those weighing less than or equal to 1000 g the mortality rate has dropped below 60% in some intensive care units. The concentration of high-risk pregnancies and deliveries in the same hospital in which the premature is cared for has led to a further reduction in the neonatal mortality rate. Most, though not all, foreign research reports a lower handicap rate than prior to the era of newborn intensive care. Studies from newborn intensive care units show considerable variation in the rates of handicaps among surviving LBW infants. Studies carried out at the same time in intensive care units and in routine care units reveal a higher or equal handicap percentage among those from intensive care units. It should be however remembered that the sometimes higher handicap rate is linked to a considerably increased survival rate and the gain in healthy lives saved is considerable. A recent comparison made in various european, american and australian centres reveals an average of 7% of cerebral palsy and 15% of mental retardation among VLBW (less than or equal to 1500 g) infants. In recent years there has been a dual tendency towards a stabilisation in the frequency of handicaps and a reduction in the gravity of the worst handicaps. Over the last 10 years there has been a renewed increase in retrolental fibroplasia: as much as 5-11% in VLBW infants less than or equal to 1000 g. Squint is the other most frequent visual defect. Hearing defects vary from 1,8% to 15%. Posthemorrhagic Hydrocephalus which takes place either early or later in the neonatal period is the most frequent complication of intraventricular haemorrhages and the prognosis depends on the gravity of the haemorrhage. Epilepsy is rare; spastic diplegia, now almost always accompanied by normal intellectual development, though considerably less frequent than in the past, is still the most frequent form of cerebral palsy. Serious mental retardation is present only among one third-one quarter of major handicaps.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Neuropsychic follow-up of the premature infant: mortality, severe sequelae, early diagnosis and prognosis]. 676 28

'True' microcephaly is associated with extremely varied ocular abnormalities, the most frequent being squint and optic atrophy. Within the heterogeneous group of the microcephalies it seems we can isolate a syndrome consisting of microcephaly, mental retardation, chorioretinal dysplasia and sometimes microphthalmia and embryological remnants such as persistence of the primary vitreous or persistence of its minor forms. Genetic transmission of such anomalies is generally considered to be autosomal recessive. The cases we are reporting on suggest that in some cases dominant transmission can be incriminated.
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PMID:Ocular abnormalities of true microcephaly. 677 26

Incontinentia pigmenti is a component of the Bloch-Sulzberger syndrome, which consists also of several major anomalies involving the central nervous system, skeleton, teeth, and the eye. Important manifestations include seizures, mental retardation, microcephaly, deformities of the skull and vertebrae, cleft palate, dystrophy of the nails, and abnormal or missing teeth. Although usually listed as a disease with which congenital cataract is associated, the more important ocular findings are those of the posterior segment, resembling lesions that enter into the differential diagnosis of the white pupil. The skin disturbance is characteristic and occurs very early in life; it may disappear entirely, obscuring the diagnosis if the ocular lesions are discovered later. The Bloch-Sulzberger syndrome usually is inherited as an X-linked dominant with lethality for males. It is a rare but important entity to the pediatric ophthalmologist.
J Pediatr Ophthalmol Strabismus
PMID:Ocular lesions in incontinentia pigmenti. 686 15


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