A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.
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Biomolecules
May 2024
Department of Biochemistry & Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0J9, Canada.
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2-5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, few genetic factors are currently identified or understood. In this study, using a candidate gene approach, we performed a genetic variant analysis of retinoic acid (RA) metabolic and developmental signaling pathway genes on whole exome sequencing data of 23 FASD-diagnosed individuals.
View Article and Find Full Text PDFEur 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 PDFClin Pediatr Endocrinol
January 2024
Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Int J Gynaecol Obstet
May 2024
Neonatal Intensive Care Unit, Women's and Children's Health Department, University Hospital of Modena, Modena, Italy.
J Clin Exp Dent
July 2023
DDS, MSc, PhD. Department of Oral Sciences, School of Dentistry, Evangelical University of Goiás, Anápolis, Brazil.
Aarskog-Scott syndrome (AAS) is characterized by different facial, skeletal and genital anomalies and may have oral manifestations. A 7-year-old boy was referred to the University General Hospital for treatment of speech difficulties and frequent regurgitation. Characteristics such as a triangle-shaped face, hypertelorism, low-set ears, flattened nose, shawl scrotum and partial syndactylia on hands and feet were observed.
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