Journal
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Volume 15, Issue 1, Pages -Publisher
PREMCHAND SHANTIDEVI RESEARCH FOUNDATION
DOI: 10.7860/JCDR/2021/45819.14401
Keywords
Craniofacial abnormalities; Genitals; Joints; Limb; Mutation; Popliteal pterygium syndrome
Categories
Ask authors/readers for more resources
Bartsocas-Papas Syndrome (BPS) is an extremely rare autosomal recessive syndrome characterized by craniofacial deformities, joint pterygia, limb abnormalities, and genital defects. The syndrome is typically lethal with most babies dying in utero or shortly after birth. Early antenatal diagnosis is crucial, especially in couples with consanguineous marriages or a positive family history.
Bartsocas-Papas Syndrome (BPS) is a very rare autosomal recessive syndrome characterised by marked craniofacial deformities, multiple pterygia of various joints, limb and genital abnormalities. It is mostly associated with mutation in the gene encoding Receptor Interacting Serine/Threonine Kinase 4 (RIPK4) required for keratinocyte differentiation. The syndrome is generally lethal and majority of babies die in-utero or in the early neonatal period. This is a report about a neonate born with characteristic clinical features of BPS including severe craniofacial and ophthalmic abnormalities, limb deformities and multiple pterygia at popliteal, axillary and inguinal region. The baby had respiratory distress at birth and was managed conservatively on Continuous Positive Airway Pressure (CPAP)/Oxygen hood and injectable antibiotics for two weeks and then referred for further work-up to a tertiary hospital. The parents took the baby home against the advice of the treating doctors and she subsequently died after 10 days. BPS is associated with high mortality and so all efforts should be directed towards diagnosing it early antenatally when termination of pregnancy is a viable option. This is possible by having a high index of suspicion in couples with consanguineous marriages or with a positive family history.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available