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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 -
The Cleft Palate-craniofacial Journal :... May 2024Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and...
Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.
Topics: Humans; Cleft Palate; Face; Speech; Dwarfism; Velopharyngeal Insufficiency; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Genetic Diseases, X-Linked
PubMed: 36475306
DOI: 10.1177/10556656221141235 -
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 -
Schizophrenia Research Jun 2015
Topics: Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation; Psychotic Disorders; Young Adult
PubMed: 25911513
DOI: 10.1016/j.schres.2015.04.011 -
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 -
Clinical Genetics Jan 1976The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon...
The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.
Topics: Abnormalities, Multiple; Adolescent; Amelogenesis Imperfecta; Face; Facial Paralysis; Genitalia, Male; Growth Disorders; Humans; Male; Mandible; Maxilla; Skull; Syndrome; Vision Disorders
PubMed: 1248161
DOI: 10.1111/j.1399-0004.1976.tb01545.x -
Oral Surgery, Oral Medicine, and Oral... Mar 1990A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic symptoms consisting of short stature, genital anomaly, and unusual...
A rare Aarskog syndrome is reported in a 12-year-old boy. The patient had a triad of characteristic symptoms consisting of short stature, genital anomaly, and unusual facies. Both jaws were hypoplastic with presence of crowded permanent teeth and over-retained deciduous teeth. Radiographic examination of teeth showed taurodontism, which has not been reported previously.
Topics: Abnormalities, Multiple; Child; Dental Pulp Cavity; Dwarfism; Face; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Jaw Abnormalities; Male; Penis; Syndrome
PubMed: 2314870
DOI: 10.1016/0030-4220(90)90311-f -
JAMA Dec 1978A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis...
A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.
Topics: Abnormalities, Multiple; Adult; Anemia, Macrocytic; Body Height; Diagnosis, Differential; Face; Female; Genes, Recessive; Genetic Linkage; Hemochromatosis; Humans; Lung Diseases; Male; Noonan Syndrome; Pedigree; Scrotum; Syndrome
PubMed: 712980
DOI: 10.1001/jama.240.24.2638 -
European Journal of Pediatrics Feb 1981A 5-year-old male with the Aarskog syndrome is described. He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild...
A 5-year-old male with the Aarskog syndrome is described. He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. In addition, he had isolated growth hormone deficiency as evidenced by the insulin, arginine, and propranolol-glucagon tests. An arginine test after short-term stimulation with estrogen further supported this diagnosis. His mother had minor abnormalities of the hands and feet, and slight mental retardation.
Topics: Child, Preschool; Dwarfism; Fingers; Growth Hormone; Humans; Intellectual Disability; Male; Scrotum; Syndrome
PubMed: 7227381
DOI: 10.1007/BF00442102 -
Ceskoslovenska Oftalmologie May 1991The authors described the rare Aarskog syndrome in a 6-year-old boy, associated with left-sided Brown's syndrome. Another 4-year-old boy came from an affected family...
The authors described the rare Aarskog syndrome in a 6-year-old boy, associated with left-sided Brown's syndrome. Another 4-year-old boy came from an affected family where the brother suffered also from Aarskog's syndrome and in the mother some microsymptoms were detected. The authors recommend that patients who on examination of a refraction defect or strabism display uncommon features in the face or other parts of the body should be always subjected to a general examination incl. genetic examination.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Eye Diseases; Face; Genitalia, Male; Humans; Hypertelorism; Male; Syndrome
PubMed: 1913912
DOI: No ID Found