Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Limb malformations in the cloverleaf skull anomaly.

S A Temtamy, A S Shoukry, I Fayad

    Birth Defects Original Article Series
    |January 1, 1975
    PubMed
    Summary

    Pfeiffer syndrome, a rare genetic disorder, can present with cloverleaf skull and limb malformations. Studying skeletal changes, especially in limbs, helps identify syndromes associated with cloverleaf skull anomalies.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.

    Genetic counseling (Geneva, Switzerland)·2018
    Same author

    Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

    Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2018
    Same author

    Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.

    Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2015
    Same author

    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

    Journal of molecular endocrinology·2012
    Same author

    A report of three patients with MMP2 associated hereditary osteolysis.

    Genetic counseling (Geneva, Switzerland)·2012
    Same author

    Clinical and cytogenetic study of a case with familial chromosomal translocation presenting with facial dysmorphism and axial neuropathy.

    Genetic counseling (Geneva, Switzerland)·2012

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Orthopedics

    Background:

    • Cloverleaf skull is a rare craniosynostosis anomaly characterized by a trilobed skull shape.
    • This anomaly can be a feature of various genetic syndromes, necessitating differential diagnosis.
    • Pfeiffer syndrome is a genetic disorder characterized by craniosynostosis and other skeletal abnormalities.

    Observation:

    • A case study of an Egyptian child presenting with cloverleaf skull anomaly.
    • The child exhibited significant limb malformations alongside the cranial anomaly.
    • These combined features suggested a diagnosis of Pfeiffer syndrome with severe cranial involvement.

    Findings:

    • The presence of limb malformations in conjunction with cloverleaf skull strongly indicated Pfeiffer syndrome.
    • This case highlights the importance of comprehensive skeletal assessment in diagnosing syndromic craniosynostosis.
    • Detailed analysis of skeletal changes, particularly limb abnormalities, is crucial for accurate diagnosis.

    Implications:

    • Accurate diagnosis of Pfeiffer syndrome and related conditions is vital for appropriate patient management and genetic counseling.
    • Understanding the spectrum of anomalies associated with cloverleaf skull can improve diagnostic accuracy.
    • Further research into the genetic and developmental pathways underlying these syndromes is warranted.

    Related Experiment Videos