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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cytogenetically detectable translocations of Y chromosome material onto the distal short arm of an X chromosome are rare and result in a variable and poorly defined phenotype of short stature and short limbs occasionally associated with mental retardation. We report on a patient with a de novo 46,X,t(X;Y)(p22;q11) chromosome constitution who has additional features not previously described with this chromosome abnormality, including abnormal retinal pigmentation, imperforate anus, and hydronephrosis. Our patient extends the phenotype associated with X;Y translocations, raising new considerations for the clinical management and genetic counseling of such patients and their families.
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PMID:De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities. 363 Nov 32

We investigated the urinary tract in 19 out of 30 children having the Williams-Beuren-Syndrome. 14 of these children showed all signs of the syndrome, whereas 8 children had only the typical cardiological findings without the pathognomonic facies and without major mental retardation. These two different types will be designed as type I and type II respectively. In 12 of the children belonging to type I there were anomalies of the kidneys and the lower urinary tract including 1 child having nephrocalcinosis. The various anomalies were found as single or combined lesions. As for type II there was only 1 child (out of 5) that showed a stenosis of the urethra and at the origin of the ureter in combination with a hydronephrosis. The frequency of anomalies of the urinary tract appears to be very high in type I. However, because of the small number of patients it is impossible to reach statistical significance in comparing the different frequencies within type I and type II. Further investigations are necessary to clarify the problem.
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PMID:[Syndrome of supravalvular aortic stenosis (Williams-Beuren syndrome) in association with changes in the kidney and efferent urinary tract]. 672 79

Storage of cholesterol, cholesterol esters, and triglycerides with distribution in different organs is characteristical in 5 distinguishable familiary thesaurismoses. Cholesterol storage disease is due to relatively benign storage of cholesterol esters predominantly in the liver with gross enlargment of this organ. Acid lipase is lysosomes is also nearly inactive in the maligne Wolman's disease with calcification of the adrenals, hepatosplenomegalia and death during infancy by gastrointestinal complications. Very similar are other diseases without renal calcification but partly with pulmonal storage of cholesterol. In only one family another type of cholesterol lipidosis and cirrhosis together with aplasia of gall bladder, renal cysts, and hydronephrosis has been observed. Two types of pure triglyceride storage disease are described, but each of them in only few cases. Tendinous xanthomatosis by storage of cholestanol predominantly in brain with mental retardation, and xanthomatosis with beta-sitosterol but normal mental development are two rare steatoses with abnormal cholesterol-like lipids, in which xanthomatas are visible.
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PMID:[Disease with storage of neutral lipids (author's transl)]. 703 73

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

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.
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PMID:New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. 882 47

Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).
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PMID:New insights into the phenotypes of 6q deletions. 918 78

We present a child with Lenz dysplasia associated with panhypopituitarism. Lenz dysplasia is characterized by small eyeball, small head, hydronephrosis, cleft lip and palate, and mental retardation. A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. We had to pay attention for airway management and hormone supplementation. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. Tracheal intubation was facilitated with vecuronium bromide. We had no difficulty in airway management. Since this patient could not release enough endogenous cortisol in response to the stress of surgery, we supplemented hydrocortisone after anesthesia induction. Urine output and serum electrolyte concentrations were carefully monitored during surgery because of the impaired ADH response. We encountered no complications in the anesthetic management of this patient.
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PMID:[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism]. 978 90

Smith-Lemli-Opitz (SLO) syndrome is an autosomal, recessive condition. The essence of SLO is abnormal metabolism of cholesterol which is characterized by decreased level of cholesterol and increased level of 7-dihydrocholesterol in serum. The main clinical features are mental retardation and congenital malformations of various organs and systems--microcephaly, syndactyly, craniofacial anomalies, cleft palate and genitourinary system, mainly external genitalia. We analyzed the group of 12 children (2 girls and 10 boys) treated due to SLO in The Children's Memorial Health Institute since 1982 to 1997. In boys we diagnosed: penile curvature; hypospadia without hypospadias; glandular, penile and scrotal hypospadia, undescended; hydrocele testis; mild unilateral hydronephrosis and in girls we reported moderate hypertrophy of clitoral preputium and stenosis of external urethral meatus. The surgical treatment was planned.
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PMID:[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome]. 981 22

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.
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PMID:Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. 1069 Feb 61

We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a coarse face, a large nose with a high nasal bridge, and microcephaly. Other features included renal anomalies (multicystic kidneys or hydronephrosis, 7/7), agenesis of the corpus callosum (4/7), swallowing difficulties, micrognathia (4/7), and pulmonary hypoplasia (3/7). Bilateral hypoplasia of the ischia and brachydactyly were also consistently observed (5/5). In two out of seven cases, prenatal ultrasound detection of microcephaly and renal anomalies led to termination of the pregnancy at 27 weeks. Three children died during the first years of life and the remaining two who survived exhibit severe developmental delay. High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were normal in all cases. Recurrence in two families suggests an autosomal recessive mode of inheritance. We propose that this unusual association, similar to that observed in a 4 year old boy by Goldblatt et al, represents a new syndrome distinct from previously reported hypoplastic patella syndromes.
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PMID:Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. 1247 Dec 9


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