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American Journal of Medical Genetics.... Jan 2012Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth... (Review)
Review
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.
Topics: Animals; Congenital Abnormalities; Congenital Microtia; Deafness; Disease Models, Animal; Ear; Humans; Mice; Prevalence; Risk Factors
PubMed: 22106030
DOI: 10.1002/ajmg.a.34352 -
Ultrasound in Obstetrics & Gynecology :... Jul 2000
Topics: Congenital Abnormalities; Female; Humans; Kidney Pelvis; Pregnancy; Ultrasonography, Prenatal; Urinary Tract
PubMed: 11084957
DOI: 10.1046/j.1469-0705.2000.00161.x -
Journal of Medical Genetics Sep 1987
Review
Topics: Abnormalities, Multiple; Child; Ear; Face; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Intellectual Disability; Male; Mouth Abnormalities; Nose; Syndrome
PubMed: 3312608
DOI: 10.1136/jmg.24.9.562 -
Journal of Medical Genetics Oct 2002The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably... (Review)
Review
The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening occurs during childhood and adult life. The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, RSK2, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.
Topics: Abnormalities, Multiple; Cardiovascular Abnormalities; Craniofacial Abnormalities; Genetic Carrier Screening; Hand Deformities, Congenital; Humans; Infant, Newborn; Intellectual Disability; Male; Mutation; Neonatal Screening; Ribosomal Protein S6 Kinases; Syndrome
PubMed: 12362025
DOI: 10.1136/jmg.39.10.705 -
American Family Physician Aug 2003Rotational and angular problems are two types of lower extremity abnormalities common in children. Rotational problems include intoeing and out-toeing. Intoeing is... (Review)
Review
Rotational and angular problems are two types of lower extremity abnormalities common in children. Rotational problems include intoeing and out-toeing. Intoeing is caused by one of three types of deformity: metatarsus adductus, internal tibial torsion, and increased femoral anteversion. Out-toeing is less common than intoeing, and its causes are similar but opposite to those of intoeing. These include femoral retroversion and external tibial torsion. Angular problems include bowlegs and knock-knees. An accurate diagnosis can be made with careful history and physical examination, which includes torsional profile (a four-component composite of measurements of the lower extremities). Charts of normal values and values with two standard deviations for each component of the torsional profile are available. In most cases, the abnormality improves with time. A careful physical examination, explanation of the natural history, and serial measurements are usually reassuring to the parents. Treatment is usually conservative. Special shoes, cast, or braces are rarely beneficial and have no proven efficacy. Surgery is reserved for older children with deformity from three to four standard deviations from the normal.
Topics: Child; Femur; Foot Deformities, Congenital; Humans; Orthopedic Fixation Devices; Range of Motion, Articular; Tibia
PubMed: 12924829
DOI: No ID Found -
HPB Surgery : a World Journal of... 1996The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to...
The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to present our experience. In the period 1982-90, 1089 cases of calculous and acalculous gallbladder disease were treated in our clinic. In this period, 27 patients were subjected to cholecystectomy because of an acalculous, non inflamed gallbladder which was elongated lying in an abnormal position with a long cystic duct. The mean duration of symptoms supportive of cholelithiasis, was 5 years. Oral cholecystogram and ultrasonography led to the diagnosis and other causes of chronic abdominal pain were excluded. There were 13 lumbar, 9 pelvic and 5 iliac gallbladders, with poor function in 20 of them. During cholecystectomy, the organ was invested by peritoneum and suspended in 7 cases from a mesentery. On pathological examination mild chronic inflammation was reported in 19 cases and minimal changes in 8. The minimum follow up was one year and the maximum 9 years. Complete relief of symptoms was achieved in all the cases. In conclusion, cholecystectomy should be offered in these symptomatic "hanging" gallbladders.
Topics: Adult; Aged; Cholecystectomy; Cholecystitis; Congenital Abnormalities; Female; Gallbladder; Humans; Male; Middle Aged
PubMed: 8725452
DOI: 10.1155/1996/60802 -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120 -
International Journal of Urology :... May 2001A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young... (Review)
Review
A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy non-consanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. Physical examination showed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis, remarkable abdominal distention and bilateral talipes equivarus. Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Female; Foot Deformities, Congenital; Heart Defects, Congenital; Humans; Infant; Kidney; Syndrome
PubMed: 11328425
DOI: 10.1046/j.1442-2042.2001.00291.x -
Indian Pediatrics Apr 2005Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial...
Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.
Topics: Abnormalities, Multiple; Bone and Bones; Craniofacial Abnormalities; Fatal Outcome; Female; Fingers; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Nipples; Polyhydramnios; Pregnancy; Scrotum; Syndrome; Toes
PubMed: 15876600
DOI: No ID Found -
The Spine Journal : Official Journal of... Mar 2014It is well-established that disc mechanical properties degrade with degeneration. However, prior studies utilized cadaveric tissues from donors with undefined back pain... (Comparative Study)
Comparative Study
BACKGROUND CONTEXT
It is well-established that disc mechanical properties degrade with degeneration. However, prior studies utilized cadaveric tissues from donors with undefined back pain history. Disc degeneration may present with pain at the affected motion segment, or it may be present in the absence of back pain. The mechanical properties and matrix quantity of discs removed and diagnosed for degeneration with patient chronic pain may be distinct from those with other diagnoses, such as spinal deformity.
PURPOSE
To test the hypothesis that discs from nondeformity segments have inferior mechanical properties than deformity discs owing to differences in matrix quality.
STUDY DESIGN/SETTING
In vitro study comparing the mechanical and matrix properties of discs from surgery patients with spinal nondeformity and deformity.
METHODS
We analyzed nucleus and annulus samples (8-11 specimens per group) from surgical discectomy patients as part of a fusion or disc replacement procedure. Tissues were divided into two cohorts: nondeformity and deformity. Dynamic indentation tests were used to determine energy dissipation, indentation modulus, and viscoelasticity. Tissue hydration at a physiologic pressure was assessed by equilibrium dialysis. Proteoglycan, collagen, and collagen cross-link content were quantified. Matrix structure was assessed by histology.
RESULTS
We observed that energy dissipation was significantly higher in the nondeformity nucleus than in the deformity nucleus. Equilibrium dialysis experiments showed that annulus swelling was significantly lower in the nondeformity group. Consistent with this, we observed that the nondeformity annulus had lower proteoglycan and higher collagen contents.
CONCLUSIONS
Our data suggest that discs from nondeformity discs have subtle differences in mechanical properties compared with deformity discs. These differences were partially explained by matrix biochemical composition for the annulus, but not for the nucleus. The results of this study suggest that compromised matrix quality and diminished mechanical properties are features that potentially accompany discs of patients undergoing segmental fusion or disc replacement for disc degeneration and chronic back pain. These features have previously been implicated in pain via instability or reduced motion segment stiffness.
Topics: Adult; Age Factors; Aged; Back Pain; Biomechanical Phenomena; Collagen; Congenital Abnormalities; Elasticity; Extracellular Matrix; Female; Humans; In Vitro Techniques; Intervertebral Disc; Male; Middle Aged; Pain Measurement; Proteoglycans; Radiography; Spinal Diseases; Stress, Mechanical
PubMed: 24246750
DOI: 10.1016/j.spinee.2013.06.089