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Orphanet Journal of Rare Diseases Apr 2008The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to... (Review)
Review
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States.
Topics: Abnormalities, Multiple; Brain; Diagnosis, Differential; Humans; Hypertelorism; Kruppel-Like Transcription Factors; Nerve Tissue Proteins; Prenatal Diagnosis; Prognosis; Rare Diseases; Recurrence; Risk Factors; Syndactyly; Syndrome; Zinc Finger Protein Gli3
PubMed: 18435847
DOI: 10.1186/1750-1172-3-10 -
The Pan African Medical Journal 2013
Review
Topics: Acrocephalosyndactylia; Adult; Child; Female; Genes, Dominant; Humans; Male; Middle Aged; Pregnancy
PubMed: 23565313
DOI: 10.11604/pamj.2013.14.66.2178 -
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 -
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