Osteogenesis imperfecta (Ol) type V is distinct Ol phenotype that has recently been described. Patients with this phenotype present characteristically with interosseous membrane calcification and hyperplastic callus formation. We present the clinical and radiographic characteristics of two Filipino families diagnosed to have Ol type V. Through this review of cases, we aim to educate healthcare providers by highlighting salient clinical and radiographic features to aid in the recognition of this specific Ol phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and issues in genetic counseling.

BACKGROUND: Osteogenesis imperfecta is a heritable disorder due to a collagen gene mutation causing a structural abnormality leading to brittle bones and osteopenia. To address the osteopenia, intravenous bisphosphonates (pamidronate) act by temporarily halting the action of osteoclasts giving time for osteoblasts to build bone. To date, there has been no local data regarding the improvement in bone mineral density of filipino patients with osteogenesis imperfecta following treatment.

METHODS: This study is a retrospective review that included six patients aged 1 year and 10months-9 years and 9 months old at the Philippines General Hospital with moderate to severe osteogenesis imperfecta who have undergone six months of pamidronate infusions at 1mg/kg/dose monthly or a total dose of 6mg/kg. Chart review was done. Hand radiographs taken at baseline and after six months of therapy were reviewed by radiologist who was blinded, to determine metacarpal indices.

RESULT: There was an increasing trend in the metacarpal index from baseline to six months post-treatment with a mean difference of 0.053mm (CI -0.0112 to 0.117). However, the increase was not stastically significant (p value 0.0874) when analyzed using the paired t-test at a 95% confidence interval. No adverse events were noted and only one patient reported a fracture after starting therapy.

CONCLUSION: Bisphosphonate infusions among the six pediatric patients with moderate to severe osteogenesis imperfecta are well tolerate and although the increase in the metacarpal index from baseline after six months of treatment is not statistically significant, the trend shows improvement of the osteopenia from baseline.

Objective: Hydrops fetalis (HF) is a diagnosis with significant morbidity and mortality. It is the objective of this study to identify common etiologic causes of HF in the Philippine General Hospital (PGH). Methods: This is a retrospective review of hydrops fetalis cases delivered at the PGH from 2010 to 2014. There was a total of 75 identified cases of hydrops fetalis. However, only 58 of these, or 77.33% have available medical charts for review. Results: The median gestational age at birth was 31 (range 2140) weeks. There were 19 identified cases (32%) of stillbirth. Of the 32 patients born alive, 30 (93.75%) died in the immediate neonatal period. The etiologies of HF were identified in 15 cases, which included congenital anomalies (n=4), cardiac anomalies (n=3), infectious problems (n=3), hematologic anomalies (n=2), placental anomalies (n=2) and congenital tumor (n=1). Cases of congenital anomalies were only detected by congenital anomaly scan; no further work-ups were done. Fifteen (15) mothers presented with microcytic, hypochromic anemia on complete blood count (CBC). The cause of HF was not confirmed in the remaining 43 (74%) cases. Conclusion It is important to fully investigate the causes of HF to aid in the proper management and counseling. Further work-up must be done for mothers presenting with microcytic, hypochromic anemia. This is an important feature of alpha thalassemia. Partners of women suspected to have alpha thalassemia should also have a hematologic screening. The deletion of the four alpha genes will result to HB Bart’s hydrops fetalis; a major cause of hydrops fetalis in Southeast Asian countries.
Hydrops Fetalis

Objective: The study aimed to determine the prevalence of birth defects among neonates born at the Philippine General Hospital (PGH) from January 2011 to December 2014. Methods: Monthly censuses of all deliveries from January 2011 to December 2014 were obtained from the Section of Newborn Medicine. All deliveries with birth defects were coded using International Classification of Diseases-10 (ICD -10). The codes were tallied and classified as either an isolated, part of a recognizable syndrome, chromosomal syndrome or multi-malformed case (MMC). Period prevalence was then calculated. Results: There was a total of 20,939 deliveries from 2011 to 2014 in PGH, of which 574 babies (2.74%) had a diagnosis of at least one birth defect. Two-hundred seventy-three babies (47.56%) had isolated defects; 130 (22.65%) with defects in MMC; 106 (18.47%) with defects as part of recognizable syndromes; and 65 (11.32%) with defects as part of chromosomal syndromes. One in 36 births has at least one birth defect, which is higher than that reported in other Asian countries. Conclusion Birth defects are significant causes of morbidity and mortality. Results of this study provide baseline data that can be used for future studies on the causation of such birth defects, and can be used to formulate policies on primary and secondary prevention. For a tertiary hospital like PGH, these data can serve as a guide towards allocation of resources and manpower towards the more common birth defects.
Congenital Abnormalities

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS) occurs with Hirschsprung’s disease. It is extremely rare with only more than 60 cases reported in the worldwide literature. We report on a Filipino newborn male infant who presented with signs and symptoms of progressive abdominal enlargement, bowel obstruction, and recurrent hypoventilation. The diagnosis of Haddad syndrome was made clinically and confirmed by sequence analysis of the PHOX2B gene which showed a 27repeat heterozygous expansion of the polyalanine-coding region. All CCHS patients require assisted ventilation especially during sleep to prevent lung atelectasis and other complications. An early diagnosis and confirmation by genetic testing is vital for proper management of affected patients.
Hirschsprung Disease

Background: Hemoglobinopathies as a group is one of the most common conditions confirmed through the newborn screening (NBS) program of the Philippines. This led to the increased participation of pediatric hematologists in the NBS program. Objective: The aim of the study was to assess newborn screening acceptance and knowledge of pediatric hematologists using an online questionnaire. Method: Members of the Philippine Society of Pediatric Hematology (PSPH), who are practicing pediatric hematologists in the Philippines, were invited to answer an online questionnaire. Results: Sixty members of the PSPH (65.2%) answered the survey. All the respondents are familiar with the newborn screening program. Fifty-seven respondents (95 %) have already managed a case of hemoglobinopathy identified through the newborn screening program. Differences in the approach to management and level of confidence with diagnostic test result interpretation have been noted. General themes of their concerns include being unaware of the protocol, concerns on delays in confirmatory tests, request for guidelines on follow-up, and incongruence of results with clinical picture. Conclusion The information collected may be used to develop strategies to better equip our pediatric hematologists and assist the PSPH standardize management protocols for hemoglobinopathies.
hemoglobinopathies ; newborn screening

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.
Myositis Ossificans

Oromandibular Limb Hypogenesis Spectrum (OMLHS) [OMIM 103300] is a rare disease characterized by congenital defects of the face, mandible, tongue and hypoplastic limbs. The exact etiology remains unknown. We present two Filipino children diagnosed with OLMHS. Patient 1 is a 2-year-old female noted to have micrognathia, sygnathia and hypoplasia of distal extremities. Patient 2 is a 6-year-old male with hypoplastic mandible, micrognathia, micromelia of both lower extremities and syndactyly of hands. The early recognition of this disease is important so that early surgical correction of deformities particularly the hypoplastic mandible be addressed to avoid complications such as respiratory distress and feeding difficulties.
Ankyloglossia ; Hanhart syndrome

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.
Congenital Abnormalities

Background: Telegenetics has been a very useful platform to continue the different services offered by the clinical genetics team especially during the COVID-19 pandemic, when this mode of care had been maximized. Objective: This paper aimed to present the process of telegenetics in a tertiary hospital and the feedback for this service through patient satisfaction surveys. Methods: Telegenetics consultation is divided into three phases: pre-consultation, consultation, and post-consultation. Patient satisfaction in the delivery of genetics services were obtained through a survey answered by patients/caregivers after telegenetics consultation. Ratings of patient satisfaction on telegenetics consultation during the pandemic (September 2020 to February 2021) were compared from that of face-to-face consultations before the pandemic (September 2019 to February 2020). Results: In 2020, there were a total of 1,228 consultations made via telegenetics. Of which, 319 consultations were for the metabolic service, 138 for dysmorphology, 207 for genetic counseling, and 564 for dietary counseling. New patients comprised 13.84% of the consultations and 86.16% were from follow-up patients. In 2021, there were a total of 3,124 consultations made via telegenetics. Of which, 617 consultations were for the metabolic service, 688 for dysmorphology, 961 for genetic counseling, and 858 for dietary counseling. New patients comprised 12.93% of the consultations and 87.07% were from follow-up patients. Over a period of 6 months, pre-pandemic (face-to-face consultation) and pandemic (telegenetics) patient satisfaction survey results showed no significant difference on the results for both new patient consultations and follow-up patient consultations that is a standard satisfactory rating of at least 3 (satisfactory) on customer satisfaction by more than 70% of the respondents. Conclusion Patient satisfaction ratings on the utility of telegenetics was comparable to that of face-to-face consultations. Its use has shown benefits like cost-effectiveness, time efficiency, improved accessibility, and psychological benefits as some patients fear a hospital setting during the pandemic. It also has limitations like possible technical difficulties during consultations and limited opportunity for physical examination, establishing rapport, and exploring psychosocial issues. Hence it is important to consider the possibility of a telegenetics consultation as an alternative to a face-to-face consultation.
Patient Satisfaction