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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 -
Indian Pediatrics Apr 2012Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums,...
Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums, demanding behavior, grandiose ideas, over familiarity, abusive assaultive behavior and tobacco abuse. On examination, patient had most of the physical characteristics of Aarskog-Scott Syndrome. He also had global developmental delay and attention deficit hyperactivity disorder. This is the first case report of Aarskog Scott syndrome combined with mania.
Topics: Attention Deficit Disorder with Hyperactivity; Bipolar Disorder; Child; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male
PubMed: 22565081
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 -
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 -
American Journal of Medical Genetics.... Jul 2022Aarskog-Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features,...
Aarskog-Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disability and behavioral difficulties. Myopathy has only been reported once in two affected siblings diagnosed with AAS. Only few adult cases have been reported. This article reports four adults with AAS (three male cases and one female carrier) from two unrelated Danish families, all males presented with variable features suggestive of myopathy. All four carried novel hemizygous pathogenic variants in the FGD1 gene; one family presented with the c.2266dup, p.Cys756Leufs*19 variant while the c.527dup; p.Leu177Thrfs*40 variant was detected in the second family. All males had some mild myopathic symptoms or histological abnormalities. Case 1 had the most severe myopathic phenotype with prominent proximal muscular fatigue and exercise intolerance. In addition, he had multiple deletions of mtDNA and low respiratory chain activity. His younger nephew, case 3, had difficulties doing sports in his youth and had a mildly abnormal muscle biopsy and relatively decreased mitochondrial enzyme activity. The singular case from family 2 (case 4), had a mildly myopathic muscle biopsy, but no overt myopathic symptoms. Our findings suggest that myopathic involvement should be considered in AAS.
Topics: Adult; Denmark; Dwarfism; Face; Female; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Syndrome
PubMed: 35388608
DOI: 10.1002/ajmg.a.62753 -
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 -
Saudi Journal of Anaesthesia 2021Aarskog Scott syndrome is a rare genetic disorder characterised by facial, limb and genital abnormalities first described in 1970. Its evolving nature in terms of...
Aarskog Scott syndrome is a rare genetic disorder characterised by facial, limb and genital abnormalities first described in 1970. Its evolving nature in terms of associated features and increased surgical interventions necessitates anaesthesiologists to have a thorough knowledge about this syndrome for a better preparedness. Although multiple case reports have been published in literature since its discovery, no case report regarding its anaesthetic considerations and challenges have been described in literature till now. We report challenges encountered and successful anaesthetic management of a seven-year-old girl with Aarskog Scott Syndrome posted for a corneal repair in view of traumatic corneal perforation.
PubMed: 34188646
DOI: 10.4103/sja.sja_1047_20 -
European Journal of Pediatrics May 2024Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH... (Review)
Review
Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent. Patients suspected with AAS were recruited, and clinical information was collected. Genetic testing and functional analysis were carried out for the diagnosis. By literature review, we summarized the clinical and genetic characteristics of FGD1-related AAS and analyzed the genotype-phenotype correlation. Five patients were recruited, and four novel FGD1 variants were identified. The diagnosis of AAS was confirmed by genetic analysis and functional study. Three patients treated with growth hormone showed improved heights during the follow-up period. By literature review, clinical features of AAS patients with FGD1 variants were summarized. Regarding FGD1 variations, substitutions were the most common form, and among them, missense variants were the most frequent. Moreover, we found patients with drastic variants showed higher incidences of foot and genitourinary malformations. Missense variants in DH domain were related to a lower incidence of cryptorchidism. Conclusion: We reported four novel pathogenic FGD1 variations in AAS patients and confirmed the efficacy and safety of growth hormone treatment in FGD1-related AAS patients with growth hormone deficiency. Additionally, our literature review suggested the crucial role of DH domain in FGD1 function. What is Known: • Aarskog-Scott syndrome is a rare genetic disease, and the only known cause is the variant in FGD1 gene. The typical clinical manifestations of AAS include facial, skeletal, and urogenital deformities and short stature. What is New: • We reported four novel FGD1 variants and reported the treatment of growth hormone in FGD1-related AAS patients. Our genotype-phenotype correlation analysis suggested the crucial role of DH domain in FGD1 function.
Topics: Humans; Guanine Nucleotide Exchange Factors; Male; Female; Child, Preschool; Abnormalities, Multiple; Child; Infant; Heart Defects, Congenital; Urogenital Abnormalities; Genetic Association Studies; Dwarfism; Scalp Dermatoses; Phenotype; Hand Deformities, Congenital; Face; Genitalia, Male; Genetic Diseases, X-Linked
PubMed: 38411716
DOI: 10.1007/s00431-024-05484-9 -
Archives of Disease in Childhood Oct 1998To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome.
AIM
To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome.
METHODS
21 boys under 17 years of age with a confirmed clinical diagnosis of Aarskog syndrome were assessed using the Griffiths mental development scales and the British ability scales.
RESULTS
IQ ranged from 68 to 128 and followed a normal distribution.
CONCLUSION
This study does not support the hypothesis that Aarskog syndrome is associated with a lowering of mean IQ.
Topics: Adolescent; Child; Child, Preschool; Facies; Genitalia, Male; Hand Deformities, Congenital; Humans; Infant; Intellectual Disability; Intelligence; Intelligence Tests; Male; Syndrome
PubMed: 9875050
DOI: 10.1136/adc.79.4.359 -
International Journal of Clinical... Sep 2012This paper reports the treatment and 12-year follow-up of a patient 7 years old who had been diagnosed with Aarskog-Scott syndrome. The patient had a history of...
This paper reports the treatment and 12-year follow-up of a patient 7 years old who had been diagnosed with Aarskog-Scott syndrome. The patient had a history of premature multiple tooth loss, vertical dimension loss and severe dentoalveolar discrepancy. Orthopedic and orthodontic rehabilitation treatments were performed to improve the patient's esthetic, functional and psychological condition. How to cite this article: Closs LQ, Tovo M, Dias C, Corradi DP, Vargas IA. Aarskog-Scott Syndrome: A Review and Case Report. Int J Clin Pediatr Dent 2012;5(3):209-212.
PubMed: 25206170
DOI: 10.5005/jp-journals-10005-1168