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)

Cephalic neural crest cells contribute to the formation of the external and middle ears, the supporting cells of the statoacoustic ganglion, other cranial nerve components, and the face. The anlage of otic sensory structures receive inductive stimuli from adjacent rhombencephalic tissue. The complex series of interactions that guide organogenesis of the outer, middle, and inner ear structures may explain why neurologic dysfunction is likely to be associated with malformations of the ear. We reviewed the records of 100 patients with complex ear anomalies with or without hearing loss. Mean age was 4.2 years (range 1 day-27 years). Malformations, either bilateral (70) or unilateral (30), involved the external ear (94), middle ear (16), and/or inner ear (12). Eighty-five patients had neurologic dysfunction. Cranial nerve dysfunction was found in 56 patients and involved nerves VIII (39 auditory and/or vestibular), VII (22), II (11), VI (8), V (4), III (3), X (3), XII (1), and IX (1). Sixty-four patients had evidence of central nervous system dysfunction such as mental deficiency/developmental delay (44), non-paretic gait disorders (17), hypotonia (16), microcephaly (13), seizures (8), motor deficits (8), autistic features (7), and radiographically confirmed intracranial abnormalities (5). Eleven of 19 children with hypoactive vestibules had delayed motor development or poor balance. Seventy-four patients had anomalies in other organ systems: 56 craniofacial, 28 osseous, 19 cardiac, 16 genito-urinary, 14 ocular, 11 gastrointestinal, and 7 cutaneous. Sixty-one patients had syndromic conditions, 32 of them branchial arch syndromes. The level of cognitive competence was not related to severity of craniofacial, ear, or cranial nerve abnormality. Children with ear malformations deserve neurologic and pediatric evaluations in addition to an otologic work-up.
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PMID:Neurologic findings in children with ear malformations. 362 8

Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.
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PMID:Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. 1142 60

This report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. Array comparative genomic hybridization demonstrated a de novo tandem 6.9 Mb duplication of at least 15 genes in chromosome 8q12, inclusive of CHD7, with breakpoints at 58,388,614 bp and 65,306,097 bp (NCBI build 36.1). Loss of CHD7 by microdeletion or intragenic mutation causes CHARGE syndrome. There is one previous report of an individual with microduplication of 8q12 involving CHD7. He also had early hypotonia, cognitive impairment, Duane anomaly, sensorineural deafness and a congenital heart defect. This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage.
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PMID:A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. 1977 54