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Lyonnet S - - 1992
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.
Jamil M N - - 1992
A 6-year-old girl with Carpenter's syndrome is reported who, in spite of a considerably distorted and small calvarium at birth, has normal mental development. Cranio-facial surgery was carried out in infancy, but its role in respect to mental development is difficult to assess since unoperated patients with normal intelligence and ...
el-Shanti H - - 1992
Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central ...
Kozlowski B W - - 1992
ABSTRACT Many forms of vitamin supplementation have been proposed for the treatment of behavioral and cognitive disorders in children with mental retardation. Except for nutrient deficiencies and selected inborn errors of metabolism, the efficacy of these treatments has not been established. Therapeutic supplementation with vitamin B(6) in Down syndrome and ...
Pfeiffer R A - - 1992
Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome ...
de Die-Smulders C - - 1992
A mother of normal intelligence and her moderately mentally retarded son, both with the typical facial features of the Brachmann-de Lange syndrome, are reported. We discuss the variable expression of the Brachmann-de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal ...
Hanssen A M - - 1992
In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In ...
Schaap C - - 1992
We report on two patients with a complicated form of trigonocephaly. The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial ...
Bauermeister S - - 1992
Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. Affected individuals have been described as having a bulbous nose, micrognathia, short stature, multiple cartilaginous exostoses, and large, protruding ears. We recently treated ...
Temtamy S A - - 1991
We have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two ...
Filteau M J - - 1991
Recent illustrations by cerebral magnetic resonance imaging of anomalies of the corpus callosum in schizophrenics have kindled renewed interest in this association. We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, mental retardation, psychotic episodes, peripheral neuropathy, and some dysmorphic ...
Hori T - - 1991
This is a case of Ramsay Hunt syndrome with mental disorder. The patient had action myoclonus, grand mal seizure and severe cerebellar ataxia. Schizophrenia-like symptoms including delusion of persecution and self-reference, auditory hallucination and incoherence were characteristically observed before the neurological disturbance became manifest. Subsequently, euphoria, disinhibition, moria and mild ...
Begeer J H - - 1991
Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et ...
Rabe P - - 1991
We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological ...
Wilkie A O - - 1991
We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a ...
Kondo I - - 1991
We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the ...
Izquierdo L A - - 1991
Recombinant 8 syndrome is a well-established syndrome with mental and developmental retardation and usually severe cardiac anomalies. A carrier parent will produce affected offspring in 6% of pregnancies and carrier offspring in 53% of such pregnancies. Four New Mexican kindres ascertained by the discovery of four apparently unrelated probands with ...
Kondo I - - 1991
We report on 2 Japanese patients (a 3-year-old girl and an 20-month-old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics ...
Rietschel M - - 1991
We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the ...
Chitayat D - - 1991
Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with ...
Der Kaloustian V M - - 1991
In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a ...
Majander A - - 1991
Mitochondrial DNA (mtDNA) deletion is associated with a variety of clinical entities. In addition to progressive external ophthalmoplegia and Kearns-Sayre syndrome, mtDNA deletions have been demonstrated in Pearson's syndrome. We report an mtDNA deletion in an infant with a variant of Pearson's syndrome. Not only does she have congenital anemia, ...
Haaf T - - 1991
We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In ...
Levisohn D - - 1991
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia, and mental retardation. An enzymatic defect in fatty alcohol oxidation recently was identified and is thought to be responsible for the disorder. We report two siblings with SLS. In addition to the ...
Jabs E W - - 1991
Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous DNA sequences of loci D4S18, D4S19, D4S20, ...
Hamm H - - 1991
We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are non-obligatory manifestations ...
Lungarotti M S - - 1991
We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar ...
Boraz R A - - 1991
Cockayne's syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. The case of a 4-year-old male with Cockayne's syndrome is presented. A dental ...
Viljoen D L - - 1991
Three elderly sisters with profound mental retardation in association with the clinical features of microcephaly, short stature, brachydactyly type D, flattened occiput, down-slanting palpebral fissures, low-set large ears, broad prominent nose and kyphoscoliosis have been investigated. Each was more than 60 years of age and their clinical features were strikingly ...
Potozkin J R - - 1991
The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective dentition, nail dystrophy, hyperkeratosis, and mental retardation. A 12-year-old boy with the syndrome was referred to us for evaluation and treatment of poikiloderma. This component of the disease was markedly ...
Hestnes A - - 1991
In a Norwegian institution for the mentally retarded, 29 adults with chromosomally verified Down's syndrome were compared to other mentally retarded patients with respect to serum somatomedin C (SmC) (insulin-like growth factor 1 [IGF-1]). Contrary to what has been observed in children, no shortage of SmC could be demonstrated in ...
Hestnes A - - 1991
This communication presents the ocular findings in 30 patients with Down's syndrome residing in a central institution for the mentally retarded. The findings have been compared to those in matched controls consisting of mentally retarded people from the same institution. The ocular status in patients with Down's syndrome has been ...
Slee J J - - 1991
A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in ...
Movahhedian H R - - 1991
Deletion of the short arm of chromosome 18 provides a highly variable phenotype. Mental retardation, short stature, and abnormal facies are invariably present. About 9 percent of patients with this syndrome have cardiac pathology. An additional case with congenital heart disease has been presented along with a review of the ...
Butler M G - - 1991
A 15-item checklist, including physical and behavioral features frequently observed in fragile X syndrome, was used in a prospective study of 188 mentally retarded males in order to identify males at risk for this syndrome. Of the 188 males, 19 were found to have the fragile X syndrome, while the ...
Eyman R K - - 1991
The longevity of people with Down syndrome being served by the California Department of Developmental Services was examined in terms of a number of variables known to be related to early mortality. The findings indicated that the predictors of survival for people with Down syndrome were not different from the ...
Hernández R M - - 1991
Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X-rays reveal generalized shortening of metacarpals, metatarsals and phalanges, hyperplasia of the first ray of the feet and premature skeletal maturation. Occasionally abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. We ...
de Rijk-van Andel J F - - 1991
The authors report three patients with Smith-Magenis syndrome; only 21 patients with this syndrome have been described previously in the literature. The syndrome is related to a deletion of chromosome 17p11 x 2, and differs from Miller-Dieker syndrome on clinical criteria and in that the latter is related to a ...
Schrander-Stumpel C - - 1991
We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. ...
Imaizumi K - - 1991
We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46,XX, t(2;16)(p13.3;p13.3). ...
Dech B - - 1991
A case of a 17-year-old female with a diagnosis of Prader-Willi syndrome, including mild mental retardation, compulsive eating with gross obesity and trichotillomania with trichophagia, is presented. She has a long history of multiple cognitive, behavioral, and psychopharmacological treatments, including several inpatient hospitalizations that had produced only limited success. With ...
Dockery H - - 1991
Twin girls with deletion 1p13.3----22.3 are reported. They are characterised by psychomotor retardation, short stature, narrowing of the external auditory meati and abnormalities of the digits. A high resolution analysis revealed the karyotype to be: 46,XX,-1,-4,-9,-18, +der(1)t(1:9) (p22.3;q13)inv(1)(p13.2:q25) del (1)(p13.3----22.3)t(4:18)(4qter----4q32::18q22----1 8qter; 18qter----18q22::4q32----4qter). A phenotype-karyotype correlation study of this case and ...
Sonoda T - - 1991
A female infant with 46,XX,rec(9), dup q,inv(9)(p22q32)pat is presented. She had a duplication from 9q32 to qter and a deletion from 9p22 to 9pter. Phenotypical abnormalities observed corresponded with features noted in cases with distal dup (9q), while pathognomonic features of del(9p) syndrome were not observed.
Piccirilli M - - 1991
Language lateralization was assessed with a dual task procedure in 10 male right-handed patients with Down's Syndrome and relatively preserved linguistic skills. Their performance was compared with that of two control groups, with and without mental retardation, matched with Down's Syndrome individuals for sex, handedness and I.Q. Results did not ...
Burd L - - 1991
Institutionalized adults with mental retardation (N = 297) were surveyed to determine the prevalence of symptoms of Rett syndrome. No symptom of the syndrome occurred more frequently in males than females. When symptoms were analyzed in clusters (e.g., severe mental retardation, no prenatal complications, walked before 15 months, and wide-based ...
Ulseth J O - - 1991
In a central institution for persons with mental retardation, the dental status in 30 adult patients with Down syndrome was compared with that in a carefully selected group of gender- and age-matched mentally retarded patients. This investigation showed an increased frequency of periodontitis in the population with Down syndrome. The ...
Le Merrer M - - 1991
Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because ...
Neri G - - 1991
We have identified 39 X-linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non-syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malformations, or lack thereof. Seventeen genes have been regionally ...
Majewski F - - 1991
We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, ...
Watty A - - 1991
A mapping study was performed on a 3-generation Spanish family with X-linked syndromal mental retardation. Affected males have a typical facial appearance, ear malformations, abnormal growth of teeth, clinodactyly, dimpled skin at the lower back, and patellar luxation. In pneumoencephalography a marked subcortical cerebral atrophy was evident. In the linkage ...
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