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)

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

A mentally retarded 8-year-old boy with a de novo partial monosomy for the short arm of the No. 8 chromosome is described. Based on G-banding analysis, the patient's karyotype was identified in lymphocytes and skin fibroblasts as 46,XY,del(8) (pter leads to p21:). No chromosomal abnormalities were found in the phenotypically normal mother, father and sister of the propositus. Four further cases described in the literature indicate that partial monosomy of the short arm of the No. 8 chromosome might be associated with a syndrome characterized by the following stigmata: mental retardation, slow growth, high forehead, broad chest, wide-set nipples, pulmonary stenosis with atrial and/or ventricular septal defect, hypoplasia of the genitalia, dermatoglyphic stigmata.
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PMID:New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome. 87 Mar 24

An 8-year-old boy with an uncorrected ventricular septal defect, pulmonary stenosis, mental retardation, and gigantism died 24 hours after partial resection of a large right-sided Wilms' tumor. The presence of other abnormalities, including a small umbilical hernia and overgrowth of the external genitalia, raises the possibility that this case represents a variant of the Beckwith-Wiedemann syndrome. The typical facial features of Sotos' syndrome were not present. Gross examination of the surgical specimen revealed that tumor was present in the resected margin of left renal vein. Necropsy showed that death resulted from extensive cerebral infarction due to occlusion of the left internal carotid artery and its branches by tumor emboli. Paradoxical embolism had occurred during or soon after partial resection of the tumor mass due to passage of tumor fragments into the systemic circulation through the ventricular septal defect.
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PMID:Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms' tumor. 132 57

A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. Association of ventricular septal defect with the classical features of 'Aniridia-Wilms' tumor association' is an unusual feature in this case.
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PMID:Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. 133 56

Twenty-seven infants with cytomegalovirus hepatitis were followed up for 15-40 months after onset of the illness. They had recovered from the hepatitis, but microcephaly was present in 2 (7.4%), sensorineural hearing loss in 5 (18.5%), quadriplegia, mental retardation, ventricular septal defect and tooth defects in 1 (3.7%) each. The patients with congenital infection had more severe and complex defects, some with perinatal infection had mild defects, those with postnatally acquired infection had no sequelae. The mean MDI and frequency of expressive language delay in the former group differed significantly from those of the other 2. Five patients still excreted cytomegalovirus in the urine at follow-up.
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PMID:Effects of cytomegalovirus hepatitis on growth, development and nervous system of infants. A follow-up study. 165 27

This paper reports on two brothers affected by FG syndrome (a rare X-linked syndrome with multiple congenital anomalies and mental retardation) and subvalvular aortic stenosis of the discrete type. This is a previously unrecognized association. The FG syndrome was firstly described by Opitz and Kaveggia in 1974. Nearly 20 cases have been reported: congenital heart diseases previously reported are atrial septal defect, ventricular septal defect and hypoplastic left heart. The clinical appearance of the two cases we have observed was that of mental retardation and typical features including abnormal facies (dolicocephaly, frontal prominence, poorly modeled auricles, micrognathia, prominent lower lip and lack of expression), anteriorly displaced anal opening, clinodactyly, great broad toes. A chromosome study showed a normal 46 XY constitution. Discrete subvalvular aortic stenosis was diagnosed by typical physical and echocardiographic findings.
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PMID:[The FG syndrome (McK 30545). Description of 2 cases with subaortic stenosis]. 404 Apr 87

Approximately 50% of patients with Trisomy 21 have congenital heart lesions and they account for 2.7% of the admissions to the Pediatric Cardiac Unit of the Cardiac Hospital of Lyons. In a series of 91 cases observed over a 10 year period (1070-1980) undergoing hemodynamic and angiographic investigation, 9 out of 10 cases - as previously reported - had the following abnormalities: endocardial cushion defect, 42.7% (39% of which were complete atrioventricular canals), ventricular septal defect, 33%, and Fallot's tetralogy, 12%. These lesions were characterised by the high incidence and precocity of pulmonary hypertension (69 out of 72 cases with a left-to-right shunt . A comparison of the hemodynamic data of children with Trisomy 21 with ventricular septal defects, and children without Trisomy 21 of the same age with ventricular septal defect showed the pulmonary arterial resistances to be significantly higher in the group with Trisomy 21, suggesting that Trisomy 21 plays a role in the pathogenesis of severe early pulmonary hypertension. The operative risk is much higher in these patients, especially with openheart surgery (4 operative deaths out of 12 cases of closure of VSD). The surgical indications are difficult to define because of the context of malformation and mental retardation, the high incidence of pulmonary hypertension and the high opertive risk requiring a large and detailed dialogue with the family.
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PMID:[Cardiopathies in trisomy 21. Therapeutic indications]. 646 Apr 81

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

Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital malformation syndrome. Frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricular anomalies and inguinal hernia. Ths Robin malformation sequence was found in four patients. The congenital heart anomalies most frequently involved a ventricular septal defect, with or without a right-sided aortic arch. There were four instances of familial transmission in the sample population. These included two cases of maternal transmission of the syndrome to daughters, one case of maternal transmission to a son, and one case of maternal transmission to both a son and daughter. There was no particular difference in expression between male and female patients so that even though X-linked dominant transmission is possible, the velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome.
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PMID:The velo-cardio-facial syndrome: a clinical and genetic analysis. 724 39

The acronym DOOR was first used by Cantwell in 1975 to describe a syndrome comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental retardation. To date, 16 cases of the syndrome have been documented in the literature. We present two sisters who died in early infancy with the clinical features of DOOR syndrome, both of whom in addition had cardiac defects and urinary tract abnormalities. Both infants had the classical clinical features of sensorineural deafness, seizures, hypoplastic nails, finger-like thumbs, and the characteristic facies of the syndrome. Autopsy in each case revealed the additional findings of a membranous ventricular septal defect and a septum secundum atrial septal defect. The first child had left-sided hydronephrosis and hydroureter, and the second sibling had bilateral hydronephrosis, hydroureter, and dilatation of the bladder. Congenital heart disease and renal abnormalities have not to our knowledge been previously described in association with the DOOR syndrome.
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PMID:Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. 780 78


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