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Journal of Developmental and Behavioral... Oct 2005Over the past decade there has been a dramatic increase in referrals to specialty clinics, craniofacial centers, plastic surgeons, and neurosurgeons for assessment and... (Review)
Review
Over the past decade there has been a dramatic increase in referrals to specialty clinics, craniofacial centers, plastic surgeons, and neurosurgeons for assessment and treatment of deformational plagiocephaly (DP). Though considered a medically benign condition, preliminary reports suggest that DP may be associated with developmental problems. However, mechanisms to account for this association have not been hypothesized or empirically tested. Although treatment justifications often center on prevention of atypical appearance, little is known about the cosmetic outcomes of treated and untreated children. In this review we hypothesize different etiological pathways linking DP with neurodevelopment (e.g., environmental positioning limitations with and without underlying CNS pathology). We outline directions for research on incidence and prevalence, developmental outcomes, sex differences, determinants of treatment participation, and craniofacial appearance. Despite the paucity of existing research, preliminary findings suggest that children with this condition should be screened and monitored for developmental delays or deficits, as we await more conclusive information from future studies.
Topics: Cognition Disorders; Craniosynostoses; Developmental Disabilities; Female; Humans; Incidence; Infant; Male; Mass Screening; Prevalence
PubMed: 16222180
DOI: 10.1097/00004703-200510000-00008 -
Orthopaedics & Traumatology, Surgery &... Oct 2012Post-traumatic radioulnar synostosis is a rare complication of forearm fracture. Resulting in loss of forearm axial rotation, it is functionally very disabling. The... (Review)
Review
Post-traumatic radioulnar synostosis is a rare complication of forearm fracture. Resulting in loss of forearm axial rotation, it is functionally very disabling. The surgical indication, timing of operation, surgical technique, interest and type of adjuvant treatment are all issues with which physicians managing radioulnar synostosis must deal. No therapeutic consensus yet exists, but a wide variety of surgical techniques and adjuvant treatments are suggested. A literature review sought to identify risk factors for synostosis, with a view to prevention and determining a suitable therapeutic attitude in the light of existing data.
Topics: Adult; Elbow Joint; Humans; Radius Fractures; Range of Motion, Articular; Synostosis; Ulna Fractures
PubMed: 23000035
DOI: 10.1016/j.otsr.2012.04.018 -
Proceedings of the Royal Society of... Feb 1947
Topics: Craniosynostoses
PubMed: 19993497
DOI: No ID Found -
European Journal of Human Genetics :... Jun 2023
Topics: Humans; Craniosynostoses; Smad6 Protein
PubMed: 36797468
DOI: 10.1038/s41431-023-01317-9 -
Turkish Neurosurgery 2017The premature closure of the metopic suture results in metopic synostosis, also known as trigonocephaly. However, there is a group of children who have only a frontal...
AIM
The premature closure of the metopic suture results in metopic synostosis, also known as trigonocephaly. However, there is a group of children who have only a frontal metopic ridge, obvious with inspection and fingertip palpation, without the clinical features of trigonocephaly. This study aims to report a group of children with metopic ridge with a special emphasis on the definition and the diagnostic features.
MATERIAL AND METHODS
Thirty-eight children with a diagnosis of metopic ridge were followed up with clinical examinations and photographs in the pediatric neurosurgery outpatient clinic between January 2010 and November 2015.
RESULTS
Children were between 3 and 30 (mean=14) months of age at diagnosis. Twenty-five (65.8%) of the children were boys and 13 (34.2%) were girls. A midline metopic ridge without fronto-orbital trigonocephalic deformity was the only diagnostic criterion. The parents" concern about the metopic deformity at initial diagnosis was a common feature in every case. Seven (18.4%) of the children had a sibling with either metopic ridge (n=4) or trigonocephaly (n=3). None of the children had worsened or had received surgery in the follow-up period.
CONCLUSION
The metopic ridge is a pathology of the metopic suture and is a concern for parents in the context of craniosynostosis. Radiological investigation and craniosynostosis surgery are unnecessary in children with a metopic ridge.This clinical entity may be considered the mildest form of metopic synostosis.
Topics: Child, Preschool; Cranial Sutures; Craniosynostoses; Female; Follow-Up Studies; Humans; Infant; Male
PubMed: 27476922
DOI: 10.5137/1019-5149.JTN.16886-15.2 -
The Indian Journal of Medical Research Mar 2022Ocular hypertelorism constitutes an important component of many clinical syndromes. It is typically recommended to use inter-pupillary distance (IPD) for objective...
BACKGROUND & OBJECTIVES
Ocular hypertelorism constitutes an important component of many clinical syndromes. It is typically recommended to use inter-pupillary distance (IPD) for objective evaluation of ocular hypo/hypertelorism. Barring infancy, there is a scarcity of data on this anthropometric parameter relating to the ocular apparatus. This study aims to study auxological dynamics of IPD in children of Indian origin.
METHODS
A total of 3622 ( 2239 males and, 1383 females) normal, healthy Indian children of North-western origin, aged one month to 14 yr comprised the sample for this study. Inner and outer-canthal distance were measured using standardized anthropometric techniques. None of the children who participated in this study had craniofacial dysmorphism or any body deformity. Mean (standard deviation SD) and percentiles were calculated for IPD in male and female subjects at different age levels.
RESULTS
IPD increased from 4.68±0.21 to 6.19±0.36 cm in males and from 4.59±0.26 to 6.08±0.25 cm in females between one month and 14 yr of age. Boys in general, possessed larger IPD than girls, however, the gender differences became significant (P≤0.05) at 10, 11, 16-18 and 22-24 months, respectively, and five and 10 yr of age, respectively.
INTERPRETATION & CONCLUSIONS
The results of this study suggest that the patients having IPD less than the 3 percentile should be treated as cases of hypotelorism while, those exceeding 97 percentile as cases of hypertelorism. The use of percentile grids presented for IPD may be used to detect ocular hypotelorism and hypertelorism in male and female children to corroborate diagnosis of different syndromes.
Topics: Child; Face; Female; Humans; Hypertelorism; India; Male; Pupil; Reference Values
PubMed: 36124511
DOI: 10.4103/ijmr.IJMR_758_20 -
Genes Dec 2023Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb... (Review)
Review
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.
Topics: Child; Humans; Young Adult; Adult; Mandibulofacial Dysostosis; Cleft Palate; Micrognathism; Syndrome; RNA Splicing Factors
PubMed: 38254920
DOI: 10.3390/genes15010029 -
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... Jun 2019Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis... (Review)
Review
Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
Topics: DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Neural Crest; Nuclear Proteins; Phosphoproteins
PubMed: 31218872
DOI: 10.7518/hxkq.2019.03.020 -
Indian Journal of Ophthalmology Jun 1973
Topics: Abnormalities, Multiple; Adolescent; Child, Preschool; Dermoid Cyst; Ear, External; Eye Neoplasms; Female; Humans; Lipoma; Mandibulofacial Dysostosis; Syndrome
PubMed: 4789118
DOI: No ID Found -
Dermatology Online Journal Mar 2005
Topics: Acrocephalosyndactylia; Child; Humans; Hyperhidrosis; Male
PubMed: 15748556
DOI: No ID Found