Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant with short stature and progressive skin lesions of cheeks and dorsum of the hands is described. Further problems such as recurrent diarrhoea and respiratory infections suggested zinc-deficiency, malabsorption-syndrome, Bloom syndrome and early Lupus Erythematosus respectively. Finally Rothmund-Thomson syndrome was diagnosed. This rare genetic disorder is characterized by variable expression of typical cutaneous changes, cataracts, skeletal anomalies, short stature, abnormal hair growth and defective nails and teeth, mental retardation, hypogonadism and a typical facial appearance.
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PMID:[An infant with short stature and red cheeks (Rothmund-Thomson syndrome)]. 177 48

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 improved with the use of pulsed dye laser photocoagulation.
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PMID:Treatment of the poikilodermatous component of the Rothmund-Thomson syndrome with the flashlamp-pumped pulsed dye laser: a case report. 192 88

Rothmund-Thomson syndrome is a rare hereditary syndrome with developmental defects. Characteristics of this syndrome, based on a review of 107 reported cases in the literature, are (in descending order) as follows: early onset of poikiloderma, short stature, absence or sparseness of eyebrow and/or eyelash hair, familial juvenile cataracts, small hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation. Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation. She had developed a basal cell epithelioma, which has not previously been described in this syndrome. Phototesting with monochromatic radiation and with a solar simulator showed photosensitivity in the ultraviolet A range but not in the ultraviolet B range. This case may represent an example of the Thomson type. The case is described and the literature reviewed.
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PMID:Rothmund-Thomson syndrome. A case report, phototesting, and literature review. 249 36

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.
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PMID:[Rothmund-Thompson syndrome with glaucoma. Endocrine study]. 631 63

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria, mental retardation or anal atresia. A phenotypic overlap of Baller-Gerold and Roberts-SC phocomelia syndrome was noted when a patient with bicoronal synostosis and bilateral radial hypoplasia was found to have premature centromere separation, a finding characteristic of Roberts syndrome [Huson et al.,1990: J Med Genet 27:371-375]. Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia, Rothmund-Thomson syndrome or VACTERL association. These reports led to a narrowed redefinition of Baller-Gerold syndrome based on the exclusion of cytogenetic and hematopoetic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. Here we report on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fits this narrow definition of Baller-Gerold syndrome. We identified a novel TWIST gene mutation in this patient, a Glu181Stop mutation predicting a premature termination of the protein carboxy-terminal to the helix 2 domain. This report provides further evidence that Baller-Gerold is of heterogeneous cause, and a thorough evaluation is indicated to identify a possibly more specific diagnosis, including Saethre-Chotzen syndrome. This differential diagnosis is of particular importance, as it is an autosomal dominant trait. Therefore, the recurrence risk for parents of an affected child can be 50% if one parent carries the mutation, as opposed to the 25% recurrence risk for autosomal recessive inheritance. Offspring of the affected patient also have a 50% risk to inherit the mutation, while the risk to bear an affected offspring for an autosomal recessive trait is very low.
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PMID:TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. 993 84

We report on a 33 year old woman with Rothmund-Thompson syndrome, Klippel-Feil syndrome and osteosarcoma. We briefly discuss the relationship of these diseases and suggest that the cause for mental retardation is cerebral atrophy as shown on imaging.
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PMID:Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. 1519 8

Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and mental retardation. RTS is accompanied by a variety of morbid complications, particularly of the skeleton. Based on the experience of five RTS patients with malformation of the craniovertebral junction, we draw attention to previously unrecognized life-threatening complications of RTS, including instability of C1-C2, os odontoideum, hypoplasia of the dens, and fusion of the cervical vertebrae. One patient developed severe cervical myelopathy. Malformation of the cervical spine may be a common syndromic constituent of RTS, to which special attention should be paid to prevent its neurologic sequelae.
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PMID:Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. 1583 59

The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. Ten percent of patients with RTS have a microdeletion 16p13.3, 40-50% carry a mutation of the CREBBP gene and another 3% have a mutation in the EP300 gene. In the remaining patients with clinically suspected RTS no mutation can be detected. Here we describe two patients with an RTS phenotype, one with a mutation in the CREBBP gene and the other without a detectable CREBBP or EP300 mutation and without a chromosomal imbalance on high-resolution arrays. Both patients present with the characteristic facial RTS phenotype, broad thumbs and big toes, mild MR, formation of keloids and glaucoma, but without postnatal growth retardation or microcephaly. In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS.
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PMID:Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. 1993 80