Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejmg.2010.10.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.
Cureus
June 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University) Pimpri, Pune, IND.
Persistent urogenital sinus (PUGS) presents as a solitary abnormality or is in association with syndromes, such as congenital adrenal hyperplasia (CAH), VACTERL association (common abbreviation for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), Bardet-Beidl syndrome, McKusick-Kaufman syndrome (MKS), and Townes-Brocks syndrome, to name a few. Those affected usually have overlapping phenotypic features of two or more syndromes. Because such children may grow up to be intellectually challenged with multiple other anomalies including gonadal hyperplasia, congenital heart defects, and sensorineural hearing loss, antenatal diagnosis becomes important.
View Article and Find Full Text PDFMcKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling.
Cureus
April 2023
Anaesthesiology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
McKusick-Kaufman syndrome is a rare genetic disorder that affects limb development, genital formation, and heart function. It is caused by mutations in the gene on chromosome 20. Individuals with this condition may have extra fingers or toes, fused labia or undescended testes, and, less commonly, severe heart defects.
View Article and Find Full Text PDFHydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature.
Cureus
February 2023
Pediatrics and Neonatology, Saudi German Hospital Group, Riyadh, SAU.
Neonatal hydrometrocolpos (HMC) is a cystic dilatation of a neonate's vagina and uterus occurring secondary to congenital vaginal obstruction, with or without maternal estrogenic stimulation of uterine and cervical glands causing increased secretions during the prenatal and postnatal period. Diagnosis is made using ultrasonography and further confirmed by MRI. HMC in a neonate can rarely present with congenital anomalies such as polydactyly, which may indicate a variety of underlying genetic syndromes.
View Article and Find Full Text PDFA case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.
Ann Med Surg (Lond)
July 2022
Department of Internal Medicine, Dow University of Health Sciences-Ojha Campus, Karachi, Pakistan.
Introduction: and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations.
Case Presentation: We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC.
Clinical Discussion: Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS.
This case report is of a 35-week female neonate with a cystic abdominal mass. Physical examination was notable for post-axial polydactyly, distended abdomen, and abnormal urethral opening. Differential diagnosis includes Bardet-Biedl Syndrome (BBS), an autosomal recessive ciliopathy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!