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)

Six children with Kabuki syndrome were studied to investigate speech patterns associated with the syndrome. Each child's speech was characterized with regard to articulation (types of errors and intelligibility), pitch (high or low), loudness (volume of speech), and prosody (general quality of speech that combines rate and inflection). All six children had a history of delayed speech and language acquisition and were receiving speech services. All individuals had articulation errors and abnormal oral resonance, which appeared to be due to poor oral-motor coordination and hypotonia and were not felt to be due to structural abnormalities such as velopharyngeal insufficiency, dental malocclusion, or cleft palate. An intriguing finding, noted in the two individuals followed from childhood into adolescence with serial speech evaluations, was that pitch, loudness, and prosody did not mature over time and what was age appropriate performance at younger ages became inappropriate in adolescence. This raises a challenge for speech services, as by adolescence, while articulation had improved, the pitch and loudness of these individuals' speech had not and so was noticeably different from peers. Distinctive speech characteristics with a lack of normal maturation during childhood can be added to the extensive list of clinical features associated with the Kabuki syndrome and hopefully will lead to improved speech/language treatment for individuals with this syndrome.
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PMID:Speech characteristics in the Kabuki syndrome. 1252 87

We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q, 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.
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PMID:Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. 1286 76

Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. cardinal signs in trisomies 22 subtypes: Distal trisomy 22 has been described in more than 15 individuals. The features are severe mental and growth retardation, failure to thrive, congenital hypotonia, hydrocephalus, microcephaly, cleft palate, epicanthic folds, low-set ears, broad prominent nasal bridge, long philtrum, micrognathia, finger-like thumbs, cryptorchidism. We describe a girl deceased at the age of 12 years and an 11 year old boy, both with a duplication of distal 22q due to a parental pericentric inversion (22) (p13q12). Their phenotypes are compatible with distal trisomy of chromosome 22. However, they did not present cleft palate, but the survival of both patients permitted us to discover sensorineural deafness not previously reported in this chromosomal duplication.
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PMID:Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes. 1528 16

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.
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PMID:A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. 1533 71

The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom's most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. As a secondary effect the latter might also cause early onset of puberty. Other secondary effects might be postnatal adaptation problems associated with neurological deficits such as muscular hypotonia due to premature delivery and reduced birthweight and most dysmorphic features as a consequence of subtle skeletal abnormalities and muscular hypotonia. Considering the rarity of traits such as cleft palate, trisomy mosaicism in the fetus is more likely causative than homozygosity of autosomal recessively inherited mutations. Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations.
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PMID:Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. 1533 70

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.
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PMID:Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. 1538 75

Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial dysmorphic features (82%), congenital heart defects (70%), immunological problems (47%), multiple congenital anomalies (64%), hypocalcemia (47%), mental retardation/learning difficulties (35%), cleft palate/velopharyngeal insufficiency (23.5%), seizures/hypotonia (23%) and growth retardation (12%). Among 56/139 patients with detailed available clinical data, the 22q11.2 deletion was confirmed in all cases with hypocalcemia and in over half of the cases with multiple congenital anomalies, immunological problems and hypotonia/seizures (70%, 60% and 57%, respectively). Genetic reevaluation of 39 patients without the 22q11.2 deletion contributed to the classification of 14 (37%) under different syndromes, emphasizing the need for stricter referral criteria.
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PMID:Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features. 1552

A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced karyotype with duplication of the distal 17q and deletion of the tip of 2p. This was derived from a reciprocal translocation in the father, 46,XY,t(2;17)(p25;q24). The propositus had some findings observed in patients with distal dup(17q), while trigonocephaly not found in these patients may be associated with the terminal deletion of 2p including the locus of SOX11 gene. It is proposed that the major clinical findings of this patient are consistent with the phenotype characteristic of the Opitz "C" trigonocephaly syndrome.
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PMID:Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. 1554 Jan 75

The Kabuki syndrome, or Niikawa-Kuroki syndrome, is a clinically recognizable syndrome of unknown etiology. Clinical findings include early hypotonia, joint laxity, developmental delay, facial dysmorphism, persistent fetal fingertip pads, cleft palate, hypodontia, lip nodules, heart defects, and a variety of other structural defects. Behavior in general is social and pleasant. In collaboration with the Dutch Kabuki Network, we evaluated the medical data of 20 individuals diagnosed with the syndrome and compared them with data from the literature. In our literature review we used convincing cases only. Frequent findings in the oral region are under-reported in the literature: apart from the cleft palate (in about 50%), hypodontia with predominantly absence of the upper lateral incisors, and a full lower lip with symmetrical nodules, or (in a minority) lip-pits are frequent findings. Also under-reported is the presence of a thickened nuchal fold during pregnancy and hydrops in the neonatal period. Clinical recognition in the neonate is difficult. Towards early puberty acute and serious weight excess has been experienced. We suggest that a cytogenetic abnormality should be ruled out in all cases. We provide further guidelines for preventive management.
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PMID:Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. 1569 Mar 68

We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.
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PMID:A new case of Okamoto syndrome. 1577 Jan 30


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