Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors give a clinical description of 19 patients from 2 years and 10 months-18 years with "elf face" syndrome. The most prominent traits of the disease were a specific look of the face, congenital heart insufficiency, muscular hypotonia, inguinal hernia. The mental state was characterized by an expressed mental retardation with some special traits: relatively well developed speech, talkativeness, good-naturedness, an euphoric mood, inactivity and poor motor functioning. In 3 patients who were older a psychopath-like syndrome was found. A study of the kariotype in 5 cases depicted hetermorphism of homologues in some pairs of chromosomes in more than 10% of the cells as well as an increased amount of structural reconstructions. Indirect calculation have shown that the incidence of the syndrome is approximately equal to 1:25000 births which is significantly more than cited in literature.
 ...
PMID:[Clinical features of one of the syndromes associated with oligophrenia--the so-called "elf face"]. 99 3

A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
 ...
PMID:A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases. 201 19

A case of bladder hernia in a 61 years old patient affected by benign prostatic hypertrophy is presented. Pre-operative diagnosis was made by cystography. After an adenomiomectomy of the prostate, the patient underwent the resection of the herniated bladder which gave the bladder its normal shape with only a slight reduction of its capacity. Inguino-scrotal bladder hernias are very rare; recognized predisponing factors are weakening of muscular and connective structures of the inguinal canal, and bladder hypotonia secondary to urethro-prostatic obstruction. These hernias, according to the anatomical position of the hernial sac, bladder and peritoneum, are classified in paraperitoneal (most frequent), intraperitoneal and extraperitoneal. The typical symptom of this disease is the two-stage micturition: the patient after a first spontaneous voiding, presses the mass and voids again. Other than cystography, useful diagnostic means are urography and cystoscopy which may confirm the diagnosis and rule out associated urinary disease. The treatment consists of either simple reduction of the bladder hernia, if the hernia is small, or resection of the herniated portion of the bladder, if the hernia is large or is associated with other diseases (e.g. tumors). Bladder resection is then followed by closure of the bladder wall in two layers and by inguinal hernia repair.
 ...
PMID:[Bladder hernia]. 852 5

A small ring-shaped supernumerary marker chromosome (SMC) was detected in 50% of metaphase cells in an 18-month-old boy with mental retardation and multiple congenital anomalies. Conventional cytogenetic methods had failed to identify the origin of the marker. When the patient was age 11.5 years, we defined the origin of the SMC by fluorescence in situ hybridization using a battery of centromere-specific DNA probes. The marker was positive with the probe for locus D2Z. More detailed characterization was achieved by using chromosome 2 arm-specific and marker-specific DNA libraries, which were constructed by microdissection of the two arms chromosome 2 and SMC with subsequent amplification of the chromosomal material by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The marker was identified as r(2)(p11.2-->q14.1). The propositus had dolichocephaly, coarse hair, low-set ears, exophthalmos, epicanthal folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, talipes varus on the right, inguinal hernia, hypogenitalism, muscular hypotonia, and mental retardation. This is the first case of SMC derived from chromosome 2 that was characterized by forward and reverse chromosome painting.
 ...
PMID:Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting. 1056 73

Sotos syndrome is a rare condition characterized by typical facies, early accelerated growth, large body size, developmental delay and congenital heart defects. Reports of anaesthetic management of these children are very rare. We report a case of general anaesthesia in a 2(1/2)-year-old boy with this condition, undergoing inguinal hernia repair. The child had a marked developmental delay, hypotonia and mitral regurgitation. The key points in the management of anaesthesia in Sotos syndrome are discussed.
 ...
PMID:Anaesthesia in a child with Sotos syndrome. 1461 29

We report on two cases of distal monosomy 11q and partial trisomy 16q due to a familial subtle translocation detected by FISH subtelomere screening. Exact breakpoint analyses by FISH with panels of BAC probes demonstrated a 9.3-9.5 megabase partial monosomy of 11q24.2-qter and a 4.9-5.4 megabase partial trisomy of 16q24.1-qter. The index patient displayed craniofacial dysmorphisms, mild mental retardation and postnatal growth retardation, muscular hypotonia, mild periventricular leukodystrophy, patent ductus arteriosus, thrombocytopenia, recurrent infections, inguinal hernia, cryptorchidism, pes equinovarus, and hearing deficiencies. In his mother's cousin who bears the identical unbalanced translocation, mild mental retardation, patent ductus arteriosus, hypogammaglobulinemia, recurrent infections, unilateral kidney hypoplasia, pes equinovarus, and hearing deficiencies were reported. Since only four descriptions of cryptic or subtle partial trisomies 16q have been published to date, our patients contribute greatly to the delineation of the phenotype of this genomic imbalance. In contrast to this, terminal deletions of the long arm of chromosome 11 cause a haploinsufficiency disorder (Jacobsen syndrome) in which karyotype-phenotype correlations are already being established. Here, our findings contribute to the refinement of a phenotype map for several Jacobsen syndrome features including abnormal brain imaging, renal malformations, thrombocytopenia/pancytopenia, inguinal hernia, testicular ectopy, pes equinovarus, and hearing deficiency.
 ...
PMID:Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). 1622 63

A 10-year-old African-American male has been followed since 2 years of age due to his mental retardation, severe behavioral problems, and dysmorphism. Conventional cytogenetic analysis, chromosome painting, high-resolution comparative genomic hybridization (HR-CGH), and bacterial artificial chromosome fluorescent in situ hybridization (BAC FISH) revealed an apparent duplication in the short arm of a chromosome 11, dup(11)(p14.3p15.1), seen also in his mentally retarded mother. The proband had moderate to severe mental retardation, a history of IUGR, infantile hypotonia, FTT, exotropia, inguinal hernia repair, and several dysmorphic features. His mother had mild mental retardation, a history of impulsivity, assaultive outbursts, and similar dysmorphism. Although G-banding and FISH indicated a duplication, HR-CGH confined the localization of material to bands 11p14-11p15 and aided the selection of locus-specific BAC clones to more precisely characterize the duplicated region. To our knowledge, the results represent the first example of a familial, cytogenetically visible duplication of euchromatin in 11p that excludes the Beckwith-Wiedemann syndrome critical region. It is possible that one or more genes had been disrupted at the breakpoints of the above structural chromosomal rearrangement giving rise to the present phenotype.
 ...
PMID:Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH. 1651 86

We describe the successful anesthetic management of a patient with stiff-person syndrome (SPS) undergoing a right inguinal hernia repair, using a somatic paravertebral block supplemented with conscious sedation. We also present the implications of general anesthesia in patients with SPS. The use of regional anesthetic techniques in patients with SPS has the advantage of avoiding exposure to muscle relaxants. The use of general anesthesia in patients with SPS carries the risk of postoperative hypotonia due to enhancement of gamma-aminobutyric acid action on synaptic transmission by drugs that have a gamma-aminobutyric acid agonistic action.
 ...
PMID:Anesthetic management of a patient with stiff person syndrome. 1673 26

FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic facial features, severe constipation, and few if any congenital malformations. Thus far, five separate loci have been identified on the X chromosome but attempts at finding the responsible gene have not yet been successful. Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome. Indeed, a previously unreported FLNA missense mutation (P1291L) was detected in our patient with FG syndrome, thus supporting this hypothesis and indicating that FG syndrome could now be added to the list of Filamin A-related disorders. Filamin A studies in other children with FG syndrome would help to confirm this association.
 ...
PMID:Filamin A mutation is one cause of FG syndrome. 1763 75

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, aneurysmatic formation, and stenotic lesions in large and medium-size arteries. We present two cases of ATS diagnosed during cardiac examination for murmurs. The first was an 11-year-old boy who had an atypical facial appearance and hyperelasticity. He had a prior operation for inguinal hernia. Echocardiography showed aneurysmatic dilatation in the main pulmonary artery and peripheral stenotic lesions. Angiography and computed tomography angiography confirmed aneurysmatic formation in the main pulmonary artery and multiple stenotic lesions in peripheral arteries and showed elongation and tortuosity of the major branches of the aorta. Surgical reconstruction of the pulmonary arterial system was performed. The second was a 3-month-old girl with an atypical facial appearance, hyperelasticity, and marked hypotonia. The aortic arch could not be visualized during echocardiography. Angiographic examination showed mild bilateral stenosis of distal pulmonary arteries, elongation and tortuosity of the aortic arch and its main branches.
 ...
PMID:[Arterial tortuosity syndrome in two cases]. 2124 61


1 2 Next >>