Fibrodysplasia Ossificans Progressiva in three Filipino children

@#Fibrodysplasia ossificans progressiva (FOP) is a debilitating, rare, autosomal dominant disorder of connective tissue characterized by malformed great toes and by progressive endochondral ossification of extra-skeletal sites (e.g., muscles, tendons, fascia) triggered by trauma, soft tissue injury, muscle fatigue, or viral infections. We present three children affected with FOP with this classic clinical presentation, the first reported cases in the Philippines, thus extending the range of classic FOP to new geographic and ethnic locations. Two of the affected children are siblings who have the common ACVR1 R206H mutation associated with classic FOP; this mutation was not found in their parents who are phenotypically unaffected, providing evidence of germline mosaicism in FOP. To our knowledge, this is the first family with genetic testing done showing presence of the classic mutation in affected siblings not seen in the unaffected parents.

Birth defects at the outpatient Department of the Philippine General Hospital from 2000-2010

Introduction@#Birth defects or congenital anomalies are a major global concern. An estimated 7.9 million children are born worldwide each year. Birth defects are among the top ten leading causes of infant deaths in the Philippines for more than six decades. The objectives of this study were to: 1) determine the frequency of birth defects among patients seen at the Outpatient Department (OPD) of the Philippine General Hospital (PGH) from 2000 to 2010; 2) describe the birth defects by organ systems and presentation (isolated, part of a recognizable syndrome, chromosomal syndrome or multimalformed case); 3) present the distribution of patients by geographic origin; 4) describe the birth defects according to age group and organ system; and 5) compare the data from this study to the previously published report among admitted patients at PGH in the same time period. @*Methods@#Medical records of new patients seen at the PGH OPD from 2000 to 2010 were reviewed. Medical records that included written diagnosis of any of the following International Classification of Diseases (ICD) -10 codes (Q 00 – Q 99, P 35.0, P 83.5, K40, H49.0, H50.0, H50.1, H53.0, H54.42, H54.7, and H55.01) were considered birth defect cases. @*Results@#Out of the 804,410 new patients at the PGH OPD from 2000 to 2010, 12,827 patients (1.59%) had a diagnosis of at least one major structural birth defect. The most common birth defects were cardiovascular, digestive, genital organ and nervous system anomalies. The top 5 anomalies in this report were: congenital malformations of cardiac septa, other congenital malformations not elsewhere classified, cleft palate with cleft lip, congenital hydrocoele, and congenital hydrocephalus. The highest percentage of birth defects were from the < 1 age group (40.3%), followed by the 1 to 4 age group (29%) and the 5 to 9 age group (14.6%). NCR, Region IV-A and Region III had the highest percentages of patients with birth defects, 51.4%, 26.03% and 10.97%, respectively. @*Conclusion@#This study revealed a prevalence of birth defects among PGH OPD patients of 1.59%. The most common birth defects were possibly surgically correctable reflecting the nature of PGH as a referral center. Majority of patients affected were in the under-5 population. The study reflects the importance of a birth defects surveillance to develop policies on strategies that will reduce the burden of morbidity and mortality secondary to preventable birth defects like congenital rubella syndrome that can be aborted by a successful immunization program. The birth defects surveillance will generate data that will support strengthening the regional hospitals with a better complement of specialists and capability for both medical and surgical management of the patients.