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

We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.
 ...
PMID:The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 51 79

The Kearns-Sayre syndrome is identified by the triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and conduction disturbances. In addition, clinical manifestations may include mental retardation, sensorineural deafness, cerebellar ataxia, and facial and peripheral muscle weakness. Morphologic alterations in skeletal muscle may be characterized by ragged-red fibers. Two patients with Kearns-Sayre syndrome underwent electrophysiological examination. The first patient had a first and second degree AV block (Mobitz type II), right bundle branch block, and left axis deviation. The His-bundle electrogram showed a prolonged HV interval as a hint at an intraventricular conduction delay. The signal-averaging technique and endocardial mapping revealed ventricular after-depolarizations. The second patient had an unsuspicious ECG, recurrent atrial tachycardias, normal atrial and ventricular conduction, and after-depolarizations in endocardial mapping. Two months later he showed a second degree AV block combined with clinical symptoms. Pacemakers were implanted in both patients. Beside disturbances of the conduction system in both patients signs of electrical instability of the myocardium were found. In this way the Kearns-Sayre syndrome may be seen as a form of cardiomyopathy.
 ...
PMID:[Electrophysiologic findings in patients with Kearns-Sayre syndrome--report on 2 cases]. 240 85

Tuberous sclerosis is a neurologic disease affecting various organs with a triade: sebaceum adenoma, mental retardation and seizures. This report presents a case of a patient with tuberous sclerosis and third degree A-V block with complete invasive and non-invasive evaluation. The patient had sincope and complete A-V block with QRS complexes showing right bundle branch block morphology. The echocardiogram showed dilated cardiomyopathy with diffuse left ventricular dysfunction and had normal coronary arteriography. The eletrophysiologic evaluation showed complete infra-hisian A-V block and QRS with left bundle branch block pattern with normal sinus nodal and A-V nodal function. It was not possible to induce ventricular tachtyarrhythmias up to two extrastimuli. Histologic study showed normal myocardium under light and electronic microscopy. After permanent VVI pacemaker implant, the patient in follow-up for 16 years. This case seems to be the first in the international medical literature of tuberous sclerosis with complete heart block.
 ...
PMID:[Total A-V block due to tuberous sclerosis. A case report]. 262 81

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cleft lip, six cases (10.5%) had isolated cleft palate and 46 cases (80.7%) had both cleft lip and palate. Thirty-seven of 46 cases with cleft lip and palate were unilateral and 20 were bilateral. Eleven of the 57 patients (19.1%) had ocular findings including congenital nasolacrimal duct obstruction (5 patients), ptosis (1 patient), bilateral iris coloboma (1 patient), dermoid tumor (1 patient), vernal conjunctivitis (1 patient), and esophoria (1 patient). Twenty patients (35%) had one or more systemic abnormalities such as motor mental retardation, hearing loss, syndactylia, growth retardation, double urinary tract, vesicoureteral reflux, penile nevus, hypospadias, non-redundant testis, inguinal hernia, mitral valve prolapsus, ventricular septal defect, complete right bundle branch block, and hirsutism. Though not very often, cleft lip and palate patients may have several associated ocular changes, and these patients should also be examined by ophthalmologists.
 ...
PMID:Ocular findings in children with nonsyndromic cleft lip and palate. 1995 Aug 42