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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

We describe a familial reciprocal translocation between the distal part of the short arm of chromosome 2 and the long arm of chromosome 10. Five individuals in two generations had multiple congenital anomalies. Their karyotypes were 46,XX or XY, -10, + der(10), t(2;10)(p24;q26). Seven persons were balanced translocation carriers whose karyotypes were 46,XX or XY,t(2;10)(p24;q26). Common manifestations included mental retardation, strabismus, narrow high-arched palate, wide alveolar ridges, other facial abnormalities, genital abnormalities and mutism. The phenotype of the unbalanced individuals is compared to that of previously published cases of the syndrome of partial duplication 2p and to reported patients with partial deletion of 10q.
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PMID:Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and delection 10q. 709 94

Retrospective study of 34 patients with bilateral microphthalmus and follow-up of 30 of these revealed mental retardation of seven, an incidence equal to or less than reported by others. Of greater import is the number of highly educated or extremely good students, a finding not previously reported. Familial incidence of microphthalmus was low (4 probable but unproved cases). It seems that in counseling parents of children with microphthalmus we should be optimistic about the future achievement of these children. Support should be provided during their learning years, and we must promote better acceptance by the community, particularly in regard to employment.
J Pediatr Ophthalmol Strabismus
PMID:Prognosis for education of children with bilateral congenital microphthalmus. 720 25

Significant alcohol ingestion during pregnancy can cause a spectrum of malformation of various degrees of severity in offspring. The full expression of "fetal alcohol syndrome" includes reduced growth, facial anomalies, and mental retardation. Affected infants are usually of near-term gestation, but small in weight and length. They continue to exhibit decreased growth postnatally. Mental retardation appears to be related to the degree of dysmorphic severity of appearance. It is primarily caused by central nervous system pathology rather than social environment. The most prevalent ophthalmologic finding in our series of a short horizontal palpebral fissure appears to be due primarily to a marked increased in intercanthal distances between the medial canthi (primary telecanthus) and to less extent mild displacement of the lateral canthi. Ptosis, often asymmetric, was noted in a number of patients. Comitant convergent strabismus was present in about 50% of our cases; a few had amblyopia. An important observation was the frequent and often high degree of myopia in these children. Low-incidence anomalies include corneal opacities (Peters anomaly in one), cataract, tortuosity of retinal vessels, and long eyelashes. Our findings plus many observations in the literature establish that children with fetal alcohol syndrome are at considerable risk for a variety of eye problems.
J Pediatr Ophthalmol Strabismus
PMID:Fetal alcohol syndrome. 726 59

Trigonocephaly is a partial form of craniostenosis or rather craniofaciostenosis in which the esthetic damage is severe and early and in which the functional damage (mental retardation, strabismus) may also be severe. The former can be corrected and the latter prevented by early and appropriate surgery. A new surgical procedure for correcting uncomplicated trigonocephaly permits normal development of the skull and orbits and normal psychomotor development.
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PMID:Trigonocephaly: some clinical and surgical features. 745 83

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.
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PMID:Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children. 768 72


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