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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 -
Acta Paediatrica Scandinavica Jul 1980The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal...
The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.
Topics: Abnormalities, Multiple; Adolescent; Dermatoglyphics; Face; Female; Hand Deformities, Congenital; Humans; Male; Pedigree; Scrotum; Syndrome
PubMed: 7446107
DOI: 10.1111/j.1651-2227.1980.tb07135.x -
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 -
The Journal of Pediatrics Dec 1972
Topics: Abnormalities, Multiple; Adolescent; Adult; Bone and Bones; Child; Craniofacial Dysostosis; Facial Expression; Female; Foot Deformities, Congenital; Genitalia, Male; Growth Disorders; Hand Deformities, Congenital; Humans; Male; Pedigree; Syndrome
PubMed: 4643030
DOI: 10.1016/s0022-3476(72)80242-7 -
Clinical and Experimental Dermatology Feb 2022
Topics: Adult; Antibodies, Monoclonal, Humanized; Dermatitis, Atopic; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Interleukin Inhibitors; Interleukin-4 Receptor alpha Subunit; Male
PubMed: 34482546
DOI: 10.1111/ced.14924 -
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: Child; Child, Preschool; Female; Humans; Male; Abnormalities, Multiple; Dwarfism; Face; Genetic Association Studies; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Phenotype; Scalp Dermatoses; Urogenital Abnormalities
PubMed: 38411716
DOI: 10.1007/s00431-024-05484-9 -
Human Genetics Jun 1978In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two...
In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.
Topics: Abnormalities, Multiple; Craniofacial Dysostosis; Face; Female; Genitalia, Male; Growth Disorders; Humans; Hypertelorism; Limb Deformities, Congenital; Male; Pedigree; Sex Factors; Syndrome
PubMed: 669698
DOI: 10.1007/BF00283632 -
Journal of Cardiac Surgery Sep 2022We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic...
We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic regurgitation; moderate mitral regurgitation was discovered during preoperative assessment. We performed a modified Bentall's procedure and mitral valve repair. A patent foramen ovale was closed. Aarskog-Scott syndrome is a complex developmental disorder, characterized by X-linked recessive hereditariness short stature, craniofacial abnormalities, hyperextension of the proximal interphalangeal joints, and genital malformations. Diagnosis is still a challenge, in light of various clinical pictures and features in common with other syndromes (i.e., Noonan, SHORT, and Robinow syndromes). It has been longly debated if cardiac surveillance is needed among the affected patients; it should be probably undertaken, in view of the higher incidence of congenital heart disease. Moreover, the presence of extremely flexible joints suggests the coexistence of a connective tissue disorder.
Topics: Aged; Aortic Aneurysm, Thoracic; Aortic Valve Insufficiency; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Syndrome
PubMed: 35703394
DOI: 10.1111/jocs.16684 -
Indian Pediatrics Jun 1987
Topics: Abnormalities, Multiple; Adult; Facial Bones; Facial Expression; Finger Joint; Growth Disorders; Humans; Male; Scrotum; Syndrome
PubMed: 3679512
DOI: No ID Found -
Minerva Pediatrica Sep 1994A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. Clinical features and genetics of the condition are reviewed. An underestimated... (Review)
Review
A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. Clinical features and genetics of the condition are reviewed. An underestimated incidence of the syndrome related to its mild phenotypical appearance is suggested. Finally the association between Aarskog syndrome and maternal epilepsy is discussed.
Topics: Abnormalities, Multiple; Child; Epilepsy; Face; Female; Fingers; Genitalia, Male; Humans; Male; Phenotype; Pregnancy; Pregnancy Complications; Syndrome
PubMed: 7799889
DOI: No ID Found