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Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Body Height; Facies; Female; Fingers; Genitalia; Humans; Male; Syndrome
PubMed: 11462708
DOI: No ID Found -
Journal of Clinical and Diagnostic... Dec 2016Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting...
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised.
PubMed: 28209013
DOI: 10.7860/JCDR/2016/22180.8982 -
European Journal of Paediatric Dentistry Sep 2023Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short...
BACKGROUND
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterised by facial dysmorphism, genital and limb anomalies as well as disproportionate acromelic short stature. Clinical diagnosis is based on physical examination and the presence of the most characteristic clinical signs. The diagnosis can be finally confirmed by molecular tests, which identify mutations in the FGD1 gene.
CASE REPORT
The report outlines the orthodontic treatment of a 6-year-old male patient, who was diagnosed with AAS syndrome. He presents all facial and oral clinical signs of this syndrome. The extent of maxillary hypoplasia and early dental crowding are so significant that immediate expansion therapy is required.
CONCLUSION
Dental management of patients with AAS syndrome represents a challenge for paediatric dentists. The key to improving a patient's aesthetic, functional and psychological condition is making the correct orthodontic decision.
Topics: Male; Child; Humans; Guanine Nucleotide Exchange Factors; Mutation; Dwarfism; Genitalia, Male
PubMed: 37337880
DOI: 10.23804/ejpd.2023.1953 -
Indian Pediatrics Apr 2002
Topics: Adolescent; Body Height; Facies; Fingers; Hand Deformities, Congenital; Humans; Male; Scrotum; Syndrome
PubMed: 11976476
DOI: No ID Found -
American Journal of Medical Genetics Jun 1993Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only... (Review)
Review
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child, Preschool; Diseases in Twins; Face; Female; Genitalia, Male; Hand Deformities, Congenital; Humans; Hypertelorism; Male; Pedigree; Syndrome
PubMed: 8322809
DOI: 10.1002/ajmg.1320460508 -
Journal of the College of Physicians... May 2013
Topics: Adolescent; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Radiography, Panoramic
PubMed: 23673187
DOI: No ID Found -
Journal of Medical Genetics Jan 1991
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 8; Diagnosis, Differential; Face; Female; Growth Disorders; Hand Deformities, Congenital; Humans; Hypertelorism; Male; Scotland; Scrotum; Syndrome; X Chromosome
PubMed: 1999832
DOI: 10.1136/jmg.28.1.44 -
Urology Dec 1983A rare case of Aarskog syndrome is presented. The Aarskog syndrome is characterized by short stature with typical facial, digital, and genital anomalies.
A rare case of Aarskog syndrome is presented. The Aarskog syndrome is characterized by short stature with typical facial, digital, and genital anomalies.
Topics: Abnormalities, Multiple; Child, Preschool; Dwarfism; Facial Expression; Fingers; Genitalia, Male; Humans; Male; Syndrome
PubMed: 6649231
DOI: 10.1016/0090-4295(83)90311-4 -
Genetics Research 2021Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out... (Review)
Review
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.
Topics: Dwarfism; Face; Genetic Association Studies; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation; Prevalence
PubMed: 33762894
DOI: 10.1155/2021/6652957 -
Journal of Oral and Maxillofacial... Oct 2018Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott... (Review)
Review
PURPOSE
Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination.
REPORT OF CASES
This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia.
DISCUSSION AND CONCLUSION
ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated.
Topics: Abnormalities, Multiple; Adolescent; Child; Dentofacial Deformities; Diagnosis, Differential; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation; Siblings
PubMed: 29689188
DOI: 10.1016/j.joms.2018.03.027