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.
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http://dx.doi.org/10.1111/j.1651-2227.1980.tb07135.x | DOI Listing |
Eur J Pediatr
May 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, People's Republic of China.
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.
View Article and Find Full Text PDFInt J Gynaecol Obstet
May 2024
Neonatal Intensive Care Unit, Women's and Children's Health Department, University Hospital of Modena, Modena, Italy.
Eur J Paediatr Dent
September 2023
Department of Life, Health-Environmental Sciences, Postgraduate School of Orthodontics, University of L'Aquila, L'Aquila, Italy.
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.
View Article and Find Full Text PDFCleft Palate Craniofac J
May 2024
University of Central Florida College of Medicine, Orlando, FL, USA.
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.
View Article and Find Full Text PDFJ Card Surg
September 2022
Division of Cardiac Surgery, IRCCS, S. Orsola Hospital, University of Bologna, Bologna, Italy.
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.
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