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

We report on two brothers with ossification anomalies of membranous and cranial bones, remodeling defect of long bones leading to dense, overtubulated, narrow diaphyses, metaphyseal flare, periostal hyperosotosis that increased during the first months of life, thoracic dystrophy and severe hypotonia. One boy had hypospadias and cleft palate. Follow-up of the surviving boy documented progressive osteopenia, slow healing of the periostal anomalies, liver angiomatosis, mental and motor delay, thoracic deformity, delay in tooth eruption, and progressive microcephaly with enlargement of the cerebral ventricles. This disorder shares some traits with osteocraniostenosis, but lacks the cranial deformity and acromelic micromelia of the latter, in which periostal anomalies are not described. The syndrome reported here may represent a milder form of osteocraniostenosis, or a new entity belonging to the same "family." Genealogical data are consistent with AR or XLR inheritance. No mutations were found in the coding sequence of filamin A.
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PMID:Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome? 1608 93

The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. However, little is known about the consequences of SLUG overexpression in embryonic development. We report SLUG duplication in a child with a unique de novo 8q11.2-->q13.3 duplication associated with tetralogy of Fallot, submucous cleft palate, renal anomalies, hypotonia and developmental delay. To investigate the effects of Slug overexpression on development, we analyzed mice carrying a Slug transgene. These mice were morphologically normal at birth, inferring that Slug overexpression is not sufficient to cause overt morphogenetic defects. In the adult mice, there was a 20% incidence of sudden death, cardiomegaly and cardiac failure associated with incipient mesenchymal tumorigenesis. These findings, while not directly implicating Slug in congenital and acquired heart disease, raise the possibility that Slug overexpression may contribute to specific cardiac phenotypes and cancer development.
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PMID:SLUG (SNAI2) overexpression in embryonic development. 1671 46

Percutaneous endoscopic gastrostomy (PEG) is a common technique for gastrostomy placement. However, certain children may not be candidates for PEG, such as those with craniofacial or foregut anomalies and prior surgery. Laparoscopic gastrostomy has also gained popularity, but this requires 2 or 3 trocar sites. The use of a larger single operating laparoscope or multiple-port laparoscopic techniques may not be practical in small children and infants. We describe a simple technique for gastrostomy tube placement in infants using a 4-mm operative bronchoscope. A 1.4-kg infant with a cleft palate and hypotonia underwent general anesthesia. A 5-mm laparoscopic port was placed in the left upper quadrant at the site of the intended gastrostomy. Following pneumoperitoneum, a 4-mm bronchoscopic optical grasper was inserted into the abdomen via the single port. The stomach was grasped and pulled out through the port site. The extracorporeal portion of stomach was matured as a gastrostomy. A low-profile gastrostomy button was placed. Proper position of the gastrostomy device was verified intraoperatively using dye. At 2 months follow-up, the child and gastrostomy are without complication. This technique is minimally invasive and provides direct visualization through one 5-mm abdominal port without the requirement of endoscopy and blind percutaneous entrance into the abdominal cavity. This single-site laparoscopic gastrostomy may be a practical alternative for infants who may not be candidates for PEG or larger single-port operating systems.
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PMID:Single site laparoscopic gastrostomy with a 4-mm bronchoscopic optical grasper. 2015 77

Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.
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PMID:Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. 1828 21

Interstitial deletion of the long arm of chromosome 13 is a rare condition characterized by multiple clinical findings. We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth. Chromosome analysis showed an interstitial deletion of chromosome 13 which was confirmed by fluorescence in situ hybridization analysis to include the Rb locus, but spare the 13q subtelomeric region. The karyotype was 46,XY,del(13)(q14.1q31.2).ish del(13)(RB1-,D13S327+) de novo. Breakpoints were further characterized by SNP-based microarray. Retinoblastoma tumors are a well-known complication of deletion of the retinoblastoma susceptibility gene, located at chromosome 13q14.2. Growth retardation is another common feature that has been described in other patients with a deletion of 13q. Additionally, this patient had brain findings on MRI consistent with bilateral polymicrogyria with predominance of the frontal lobes, as well as prominent infratentorial and supratentorial vasculature. There are a variety of polymicrogyria syndromes that are distinguished by the cortical location of the abnormal folding. Several of the subtypes have known genetic loci associated with them. To our knowledge, this is the only report of polymicrogyria in association with a deletion of chromosome 13.
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PMID:Interstitial deletion of 13q associated with polymicrogyria. 1832 87

We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole-genome high-resolution comparative genetic hybridization analysis were negative for any gross numerical or structural chromosome aberrations and for microdeletions/duplications of more than 3 million base pairs respectively. Fluorescence in situ hybridization analysis for 22q11.2 deletion and DNA analysis of the protein tyrosine phosphatase, non-receptor type II gene were normal, thus excluding DiGeorge and Noonan syndromes. Our patient did not show most of the cardinal features of Schinzel-Giedion, otopalatodigital, and C-trigonocephaly syndromes. Moreover, in our patient some new malformations were identified: unilateral kidney hypoplasia and severe anal stenosis. The latter was considered as pertinent and is described here to establish a wider clinical spectrum of Okamoto syndrome. At the age of 3 years 6 months the child continues to show severe growth failure and significant global developmental delay. For the practising paediatrician it is prudent to bear Okamoto syndrome in mind, especially in children with learning disability and a pattern of dysmorphic features.
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PMID:Okamoto syndrome in a girl of Caucasian origin. 1904 88

Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks). Both autosomal recessive and X-linked inheritance have been proposed, but chromosomal abnormalities involving disparate loci have also been detected in a small number of cases. We report a patient with classical features of TCS and an apparently balanced de novo translocation between chromosomes 2 and 14 [46,XY,t(2;14)(q33;q22)]. Molecular characterization revealed direct interruption of the special AT-rich sequence-binding protein-2 (SATB2) gene at the 2q33.1 translocation breakpoint, while the 14q22.3 breakpoint was not intragenic. SATB2 mutation or deletion has been associated with both isolated and syndromic facial clefting; however, an association with TCS has not been reported. SATB2 functions broadly as a transcription regulator, and its expression patterns suggest an important role in craniofacial and central nervous system development, making it a plausible candidate gene for TCS.
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PMID:Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 1917 Jul 18

Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire SHOX gene but little flanking sequence and so will not encompass any of the long-range enhancers required for SHOX transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the SHOX coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri-Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences.
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PMID:Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. 1993 87

Our report is on a Hispanic boy for whom, shortly after birth, clinical suspicion of 22q11.2 deletion syndrome (22q11.2DS) was raised as a result of his characteristic features, including facial dysmorphisms and hypotonia. The 22q11.2DS was confirmed by fluorescence in situ hybridization (FISH), noting a 22q11.2 deletion. Further evaluation revealed complete congenital absence of the left internal carotid artery and focal pachygyria of the left hemisphere. Multiple cardiac and vascular anomalies have been previously described in 22q11 deletion syndrome, but congenital absence of the internal carotid has not been previously reported in the literature. We present a clinical case report in detail of this unique 22q11.2 deletion syndrome associated finding.
Cleft Palate Craniofac J 2010 May
PMID:A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome. 1986 May 31

We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is very heterogeneous, with high variability also in the familiar cases. Up till now, about 50 cases of 22q11.2 duplication have been reported, but only three of them are associated with autistic disorders. We propose that in addition to 22q13.3 deletion syndrome, also 22q11.2 duplication should be suspected in a patient with unspecified dysmorphisms, mental retardation, autism, hypotonia, and severe speech delay.
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PMID:Association of syndromic mental retardation and autism with 22q11.2 duplication. 2002 Apr


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