Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five new cases and one previously reported case of the Coffin-Siris syndrome are described. These cases plus the remaining four already published bring to ten the number of cases available for scrutiny. Constant features (100% frequency) include variable degrees of mental retardation, nail hypoplasia or absence with predominantly fifth digit involvement, hypotonia, infancy feeding problems, and retarded bone age. Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair hypotrichosis. Significant but less frequent findings include short philtrum (50%, scoliosis (40%), decreased fetal activity (40%), smallness for gestational age (30%), and congenital heart defects (30%). We found the craniofacial phenotype to be mild in the young infant, but progressively more characteristic with age. Autosomal recessive inheritance is suspected on the basis of our brother-and-sister pair.
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PMID:The Coffin-Siris syndrome: five new cases including two siblings. 66 92

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 recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.
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PMID:Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. 172 13

Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.
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PMID:Partial biotinidase deficiency associated with Coffin-Siris syndrome. 191 29

A 5 1/2 year old female patient with Coffin-Siris syndrome is described. This syndrome is characterised by multiple congenital anomalies and mental retardation. The important clinical features include postnatal growth retardation, microcephaly, considerable psychomotor retardation, coarse facies with thick lips, sparse scalp hair with hypertrichosis of the face and body, as well as hypoplasia or even aplasia of distal phalanges of fingers and toes. Chromosomal aberrations, which could be considered as differential diagnosis are excluded by the finding of a normal karyotype. The aetiology or pathogenesis of this syndrome are not really known.
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PMID:[Coffin-Siris syndrome in a 5-year-old girl]. 378 38

The familial occurrence of the Coffin-Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger- or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin-Lowry syndrome, is discussed.
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PMID:The Coffin-Siris syndrome: report of a family and further delineation. 649 51

A case study of a female patient in which most of the fingernails and toenails and terminal phalanges of hands and feed were absent, together with retarded psychomotor development, minor mental retardation and seizures due to simple cerebral cyst, with bilateral deafness is presented. This association, similar to Coffin-Siris syndrome, is not found in the literature.
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PMID:[Absence of hypoplasia of fingernails and toenails and terminal phalanges of hands and feet (author's transl)]. 719 64

A 5-month-old female with the Coffin-Siris syndrome is described. Characteristic features included prenatal and postnatal growth retardation, slight mental retardation, feeding and respiratory problems, microcephaly, hypotonia, full lips, congenital heart disease, hypoplasia of the distal phalanges of the fifth fingers and toes. She underwent successful primary closure of a ventricular septal defect at 8.5 months of age, weighing 5.0 kg. After the operation, the feeding and respiratory problems disappeared, and growth and development were well maintained.
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PMID:The Coffin-Siris syndrome: a case report. 719

Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.
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PMID:[The Coffin-Siris syndrome. Description of 4 patients and a literature review]. 849

In this report we present data on cognitive development, language, behavior and social skills in 12 children and adolescents, nine girls and three boys, aged between 2.5 and 19 years, with Coffin-Siris syndrome (CS). 1. Mental retardation was mild in three patients and moderate in the nine others. 2. Speech onset was severely retarded with little interest in language. In the older group (seven patients aged 7 to 19 years), language comprehension was appropriate to the mental level. 3. Gross-motor functioning and autonomy, with the lowest score on "Task-orientation", were equal to the mental development. 4. Most frequently, aggressive disturbed behavior was observed, especially in the youngest children, while mixed disturbed behavior was observed in the oldest patients. Almost half of the CS patients (5/11) presented symptoms of pervasive developmental disorder, with 2/11 scoring in the pathological range. Obsessive interests, strong dependence on patterns and rituals and unusual fears were characteristic behavioral problems also when they got older.
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PMID:The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. 859 67

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.
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PMID:Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 877 17


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