Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest, cubitus valgus, scoliosis and dermatoglyphic findings not characteristic of Down's syndrome is reported. In addition to X/XXX, she had a partial trisomy 21 of the short arm-centromere-proximal long arm segment due to maternal t(12;21) translocation. Two phenotypically normal siblings carried the balanced translocation.
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PMID:Double aneuploidy: partial trisomy 21 and XO/XXX in a family with 12/21 translocation. 31 94

Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome.
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PMID:Megalocornea, macrocephaly, mental and motor retardation (MMMM). 220 67

A retrospective review of 47 patients with neurofibromatosis was performed to evaluate the effects of that disease on patient function and disability. Clinical manifestations were distributed as follows: cafe-au-lait markings were the most prevalent manifestation (87%), followed by a positive family history (49%), scoliosis (53%), neurofibromata (19%), and pseudarthrosis of the tibia (19%). The classic scoliosis was resistant to brace treatment; bracing failed in 70% of patients, necessitating spinal fusion. Pseudarthrosis of the tibia can be subdivided into normal, narrow sclerotic, and cystic medullary canal groups. This study supported the theory that tibias with narrow sclerotic medullary canals should be prophylactically braced until skeletal maturity to prevent fracture. Once fractured, the incidence of non-union is high regardless of treatment mode. Eighty percent of patients with pseudarthrosis of the tibia did not heal with multiple bone grafts and were amputated below the knee. Many patients in this study were educable or only mildly mentally retarded, and performed quite well in activities of daily living.
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PMID:The orthopedic manifestation of neurofibromatosis. A clinical experience and review of the literature. 313 Feb 9

Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.
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PMID:[Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation]. 713 Sep 55

A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of Diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. Birth weight was 3600 g and other measurements were not recorded. Colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam. 771 56

The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.
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PMID:Cri du chat syndrome: changing phenotype in older patients. 1067 57

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
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PMID:Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 1261 69

Bardet-Biedl syndrome is an autosomal recessive disorder poorly characterized in the orthopaedic literature. Classic manifestations of the syndrome include pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mild mental retardation. Previous reports have implied that orthopaedic findings are due to an epiphyseal dysgenesis inherent to the syndrome. The purpose of this study was to evaluate the orthopaedic manifestations of 27 patients with this syndrome. Detailed medical histories and physical examinations as well as pedigree analyses and radiographic bone surveys were performed. Orthopaedic findings included the following: 17 patients had postaxial polydactyly, 4 patients had scoliosis, 2 patients had tibia valga, 2 patients had tibia vara, and 1 patient had Legg-Calve-Perthes. The bone survey did not reveal any additional radiographic abnormalities. Based on these results, Bardet-Biedl syndrome patients do not have epiphyseal dysgenesis; their epiphyseal manifestations are probably the result of their obesity.
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PMID:Orthopaedic manifestations of Bardet-Biedl syndrome. 1467 42

We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.
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PMID:Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. 1536 65