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Fulltext Clinical glycomics for the diagnosis of congenital disorders of glycosylation

Abu Bakar N, Lefeber DJ, van Scherpenzeel M

J Inherit Metab Dis, 2018 May;41(3):499-513.
PMID: 29497882 DOI: 10.1007/s10545-018-0144-9

Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG. This review provides an introduction into protein glycosylation and presents the different glycomics methodologies ranging from gel electrophoresis to mass spectrometry (MS) and from free glycans to intact glycoproteins. The role of glycomics in the diagnosis of congenital disorders of glycosylation (CDG) is presented, including a diagnostic flow chart and an overview of glycomics data of known CDG subtypes. The review ends with some future perspectives, showing upcoming technologies as system wide mapping of the N- and O-glycoproteome, intact glycoprotein profiling and analysis of sugar metabolism. These new advances will provide additional insights and opportunities to develop personalized therapy. This is especially true for inborn errors of metabolism, which are amenable to causal therapy, because interventions through supplementation therapy can directly target the pathogenesis at the molecular level.

Matched MeSH terms: Congenital Disorders of Glycosylation
The birth prevalence, severity, and temporal trends of congenital heart disease in the middle-income country: A population-based study

Mat Bah MN, Sapian MH, Jamil MT, Abdullah N, Alias EY, Zahari N

Congenit Heart Dis, 2018 Nov;13(6):1012-1027.
PMID: 30289622 DOI: 10.1111/chd.12672

OBJECTIVES: There is limited data on congenital heart disease (CHD) from the lower- and middle-income country. We aim to study the epidemiology of CHD with the specific objective to estimate the birth prevalence, severity, and its trend over time.

DESIGN: A population-based study with data retrieved from the Pediatric Cardiology Clinical Information System, a clinical registry of acquired and congenital heart disease for children.

SETTING: State of Johor, Malaysia.

PATIENTS: All children (0-12 years of age) born in the state of Johor between January 2006 and December 2015.

INTERVENTION: None.

OUTCOME MEASURE: The birth prevalence, severity, and temporal trend over time.

RESULTS: There were 531,904 live births during the study period with 3557 new cases of CHD detected. Therefore, the birth prevalence of CHD was 6.7 per 1000 live births (LB) (95% confidence interval [CI]: 6.5-6.9). Of these, 38% were severe, 15% moderate, and 47% mild lesions. Hence, the birth prevalence of mild, moderate, and severe CHD was 3.2 (95% CI: 3.0-3.3), 0.9 (95% CI: 0.9- 1.1), and 2.6 (95% CI: 2.4-2.7) per 1000 LB, respectively. There was a significant increase in the birth prevalence of CHD, from 5.1/1000 LB in 2006 to 7.8/1000 LB in 2015 (P

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/economics; Heart Defects, Congenital/epidemiology*
Fulltext Risk of all-cause and CHD mortality in women versus men with type 2 diabetes: a systematic review and meta-analysis

Xu G, You D, Wong L, Duan D, Kong F, Zhang X, et al.

Eur J Endocrinol, 2019 Apr;180(4):243-255.
PMID: 30668524 DOI: 10.1530/EJE-18-0792

Objective: Previous studies have shown sex-specific differences in all-cause and CHD mortality in type 2 diabetes. We performed a systematic review and meta-analysis to provide a global picture of the estimated influence of type 2 diabetes on the risk of all-cause and CHD mortality in women vs men.
Methods: We systematically searched PubMed, EMBASE and Web of Science for studies published from their starting dates to Aug 7, 2018. The sex-specific hazard ratios (HRs) and their pooled ratio (women vs men) of all-cause and CHD mortality associated with type 2 diabetes were obtained through an inverse variance-weighted random-effects meta-analysis. Subgroup analyses were used to explore the potential sources of heterogeneity.
Results: The 35 analyzed prospective cohort studies included 2 314 292 individuals, among whom 254 038 all-cause deaths occurred. The pooled women vs men ratio of the HRs for all-cause and CHD mortality were 1.17 (95% CI: 1.12-1.23, I2 = 81.6%) and 1.97 (95% CI: 1.49-2.61, I2 = 86.4%), respectively. The pooled estimate of the HR for all-cause mortality was approximately 1.30 in articles in which the duration of follow-up was longer than 10 years and 1.10 in articles in which the duration of follow-up was less than 10 years. The pooled HRs for all-cause mortality in patients with type 2 diabetes was 2.33 (95% CI: 2.02-2.69) in women and 1.91 (95% CI: 1.72-2.12) in men, compared with their healthy counterparts.
Conclusions: The effect of diabetes on all-cause and CHD mortality is approximately 17 and 97% greater, respectively, for women than for men.

Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/mortality*; Heart Defects, Congenital/physiopathology
A case of congenital deformity suggestive of leprosy

Veerasingham KV

Malayan Medical Journal, 1934;9:209.

Matched MeSH terms: Congenital Abnormalities
Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Zahari N, Mat Bah MN, A Razak H, Thong MK

Eur J Pediatr, 2019 Aug;178(8):1267-1274.
PMID: 31222391 DOI: 10.1007/s00431-019-03403-x

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/epidemiology*; Heart Defects, Congenital/therapy
A case of disordered development of the female genitalia

Poynton JO

Lancet, 1938;231:1050-1.
DOI: 10.1016/S0140-6736(00)94523-9
Matched MeSH terms: Congenital Abnormalities
Fulltext Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism

Lee CC, Harun F, Jalaludin MY, Lim CY, Ng KL, Mat Junit S

Biomed Res Int, 2014;2014:370538.
PMID: 24745015 DOI: 10.1155/2014/370538

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in thyroid tissues of the two sisters. The abnormal transcript contained 34 nucleotides originating from intron 12. The c.2268dup is predicted to generate a premature termination codon (PTC) at position 757 (p.Glu757X). Instead of restoring the normal reading frame, the alternatively spliced transcript has led to another stop codon at position 740 (p.Asp739ValfsX740). The two PTCs are located at 116 and 201 nucleotides upstream of the exons 13/14 junction fulfilling the requirement for a nonsense-mediated mRNA decay (NMD). Quantitative RT-PCR revealed an abundance of unidentified transcripts believed to be associated with the NMD. TPO enzyme activity was not detected in both patients, even though a faint TPO band of about 80 kD was present. In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.

Matched MeSH terms: Congenital Hypothyroidism/diagnosis; Congenital Hypothyroidism/enzymology*; Congenital Hypothyroidism/genetics*
Noncompaction cardiomyopathy manifesting as retinal artery occlusion

Jin-Poi T, Shatriah I, Ng SL, Zurkurnai Y, Yunus R

JAMA Ophthalmol, 2013 Feb;131(2):263-5.
PMID: 23411903 DOI: 10.1001/jamaophthalmol.2013.587
Matched MeSH terms: Heart Defects, Congenital/diagnosis*; Heart Defects, Congenital/drug therapy; Heart Defects, Congenital/physiopathology
Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country

Ho JJ, Thong MK, Nurani NK

Aust N Z J Obstet Gynaecol, 2006 Feb;46(1):55-7.
PMID: 16441696

We studied 253 women with a pregnancy complicated by a birth defect and 506 controls to determine the frequency and type of prenatal tests and the types of defects detected antenatally. Most women had at least one ultrasound examination, but the frequency of other screening tests was low. Only 38 (15%) of defects were detected antenatally (37 by ultrasound). Birth prevalence is unlikely to be affected by pregnancy termination.

Matched MeSH terms: Congenital Abnormalities/diagnosis*; Congenital Abnormalities/epidemiology*; Congenital Abnormalities/prevention & control
Management algorithm in pulmonary atresia with intact ventricular septum

Alwi M

Catheter Cardiovasc Interv, 2006 May;67(5):679-86.
PMID: 16572430 DOI: 10.1002/ccd.20672

Pulmonary atresia with intact ventricular septum (PAIVS) is a disease with remarkable morphologic variability, affecting not only the pulmonary valve but also the tricuspid valve, the RV cavity and coronary arteries. With advances in interventional techniques and congenital heart surgery, the management of PAIVS continues to evolve. This review is an attempt at providing a practical approach to the management of this disease. The basis of our approach is morphologic classification as derived from echocardiography and angiography. Group A, patients with good sized RV and membranous atresia, the primary procedure at presentation is radiofrequency (RF) valvotomy. Often it is the only procedure required in this group with the most favourable outcome. Patients with severely hypoplastic RV (Group C) are managed along the lines of hearts with single ventricle physiology. The treatment at presentation is patent ductus arteriosus (PDA) stenting with balloon atrial septostomy or conventional modified Blalock Taussig (BT) shunt. Bidirectional Glenn shunt may be done 6-12 months later followed by Fontan completion after a suitable interval. Patients in Group B, the intermediate group, are those with borderline RV size, usually with attenuated trabecular component but well developed infundibulum. The treatment at presentation is RF valvotomy and PDA stenting +/- balloon atrial septostomy. Surgical re-interventions are not uncommonly required viz. bidirectional Glenn shunt when the RV fails to grow adequately (11/2 - ventricle repair) and right ventricular outflow tract (RVOT) reconstruction for subvalvar obstruction or small pulmonary annulus. Catheter based interventions viz. repeat balloon dilatation or device closure of patent foramen ovale (PFO) may also be required in some patients.

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/pathology; Heart Defects, Congenital/therapy*
Addisonian-Like Hyperpigmentation as an Indicator of Uncontrolled Congenital Adrenal Hyperplasia

Patel FB, Newman SA, Norton SA

Skinmed, 2016 02 01;14(1):53-4.
PMID: 27072733

A 20-year-old man of Indo-Malaysian ancestry presented with a complaint of increased facial pigmentation that he first noticed at age 13. He had congenital adrenal hyperplasia (21-hydroxylase deficiency, salt-wasting variant; OMIM 201910), diagnosed during infancy. Glucocorticoid and mineralocorticoid therapy was started at that time, but he had several episodes of salt craving during adolescence. During the past 7 years, the degree of facial pigmentation waxed and waned but never returned to baseline of early adolescence. Progressive skin darkening was also observed in annual family photos, which also showed a vast difference in skin tones between the patient and other members of his immediate family.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications*; Adrenal Hyperplasia, Congenital/drug therapy
Survival and Associated Risk Factors for Mortality Among Infants with Critical Congenital Heart Disease in a Developing Country

Mat Bah MN, Sapian MH, Jamil MT, Alias A, Zahari N

Pediatr Cardiol, 2018 Oct;39(7):1389-1396.
PMID: 29756159 DOI: 10.1007/s00246-018-1908-6

Critical congenital heart disease (CCHD) is associated with significant morbidity and mortality. However, data on survival of CCHD and the risk factors associated with its mortality are limited. This study examined CCHD survival and the risk factors for CCHD mortality. Using a retrospective cohort study of infants born with CCHD from 2006 to 2015, survival over 10 years was estimated using Kaplan-Meier analysis, and the risk factors for mortality were analyzed using multivariate Cox proportional hazards regression. A total of 491 CCHD cases were included in the study, with an overall mortality rate of 34.8% (95% confidence interval [CI] 30.6-39.2). The intervention/surgical mortality rate was 9.8% ≤ 30 days and 11.5% > 30 days after surgery, and 17% died before surgery or intervention. The median age at death was 2.7 months [first quartile: 1 month, third quartile: 7.3 months]. The CCHD survival rate was 90.4% (95% CI 89-91.8%) at 1 month, 69.3% (95% CI 67.2-71.4%) at 1 year, 63.4% (95% CI 61.1-65.7%) at 5 years, and 61.4% (95% CI 58.9-63.9%) at 10 years. Weight of

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/mortality*
Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience

Karen Leong SW, Wu LL

Med J Malaysia, 2019 02;74(1):92-93.
PMID: 30846672

Testicular adrenal rest tumours (TART) are aberrant adrenal tissue within the testes (1). Although benign, they can lead to obstruction of the seminiferous tubules and infertility in patients with congenital adrenal hyperplasia (CAH). We report six boys who developed TART, a complication of CAH. Diagnosis was confirmed by ultrasound and testicular vein sampling of elevated 17-hydroxyprogesterone (17-OHP) levels. Glucocorticoids dosages were increased 1½-2 folds to suppress size of the aberrant adrenal tissues. Despite reductions in 17-OHP, the lesions remained unchanged. Three patients had testis-sparing surgery to excise the TART and to preserve normal testicular tissues.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/complications; Adrenal Hyperplasia, Congenital/diagnosis
Fulltext Rubella (German measles) revisited

Leung AKC, Hon KL, Leong KF

Hong Kong Med J, 2019 04;25(2):134-141.
PMID: 30967519 DOI: 10.12809/hkmj187785

Rubella is generally a mild and self-limited disease in children. During pregnancy, rubella can have potentially devastating effects on the developing fetus. Postnatal rubella is transmitted primarily by inhalation of virus-laden airborne droplets or direct contact with infected nasopharyngeal secretions. In susceptible pregnant women, the virus may cross the placenta and spread through the vascular system of the developing fetus. Postnatally acquired rubella typically begins with fever and lymphadenopathy, followed by an erythematous, maculopapular rash. The rash classically begins on the face, spreads cephalocaudally, becomes generalised within 24 hours, and disappears within 3 days. Maternal rubella, especially during early pregnancy, may lead to miscarriage, intrauterine fetal death, premature labour, intrauterine growth retardation, and congenital rubella syndrome. Cataracts, congenital heart defects, and sensorineural deafness are the classic triad of congenital rubella syndrome and they typically occur if the fetal infection occurs in the first 11 weeks of gestation. Laboratory confirmation of rubella virus infection can be based on a positive serological test for rubella-specific immunoglobulin M antibody; a four-fold or greater increase in rubella-specific immunoglobulin G titres between acute and convalescent sera; or detection of rubella virus RNA by reverse transcriptase-polymerase chain reaction. Treatment is mainly symptomatic. Universal childhood immunisation and vaccination of all susceptible patients with rubella vaccine to decrease circulation of the virus are cornerstones to prevention of rubella and, more importantly, congenital rubella syndrome.

Matched MeSH terms: Rubella Syndrome, Congenital/epidemiology*; Rubella Syndrome, Congenital/prevention & control*
Asymptomatic Balanced Double Aortic Arch Associated With Tetralogy of Fallot

Haranal M, Abdul Latiff HB, Sivalingam S

World J Pediatr Congenit Heart Surg, 2020 01;11(1):130-132.
PMID: 31835984 DOI: 10.1177/2150135119885889

Coexistence of asymptomatic balanced double aortic arch with tetralogy of Fallot (TOF) is extremely rare and represents a surgical dilemma in decision-making due to the lack of consensus on the management of this subset of patients. We report a case of asymptomatic balanced double aortic arch coexistent with TOF in a two-year-old girl.

Matched MeSH terms: Heart Defects, Congenital/diagnosis; Heart Defects, Congenital/surgery
A Multicenter Cross-Sectional Study of Malaysian Females With Congenital Adrenal Hyperplasia: Their Body Image and Their Perspectives on Feminizing Surgery

Zainuddin AA, Grover SR, Soon CH, Ghani NAA, Mahdy ZA, Manaf MRA, et al.

J Pediatr Adolesc Gynecol, 2020 Oct;33(5):477-483.
PMID: 32376362 DOI: 10.1016/j.jpag.2020.04.008

OBJECTIVE: To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG).
DESIGN: Multi-center cross-sectional study.
SETTING: Two tertiary medical centers in Malaysia.
PARTICIPANTS: A total of 59 patients with CAH who were raised as females and more than 10 years old, and their parents.
METHODS: The CAH respondents completed the validated and translated Body Image Disturbance Questionnaires (BIDQ). All CAH respondents and their parents underwent semi-structured interviews to explore their views on FG.
MAIN OUTCOME MEASURES: Body image disturbance score and perspectives on FG.
RESULTS: The 59 CAH respondents consisted of 12 children, 29 adolescents, and 18 adults. The majority were of Malay ethnicity (64.4%) with classical CAH (98.3%) and had undergone FG (n = 55, 93.2%). For the BIDQ scores, the median score (interquartile range) for general body image was 1.29 (0.71), range 1.00-3.29, whereas the genital appearance score was 1.07 (0.39), range 1.00-4.29, revealing a greater concern for general body parts over genitalia. With regards to FG, it was perceived as necessary. Infancy and early childhood were perceived as the best timing for first FG by both respondents and parents, most preferring single-stage over 2-stage surgery.
CONCLUSIONS: General body appearance concerns were greater than for genital appearance, with more impact on the patients' lives. Contrary to much international opinion, feminizing surgery was perceived as necessary and appropriate by CAH respondents and their families, and should be offered in infancy or early childhood. Future qualitative studies are recommended.

Matched MeSH terms: Adrenal Hyperplasia, Congenital/psychology*; Adrenal Hyperplasia, Congenital/surgery
Spatiotemporal proximity of rubella cases to the occurrence of congenital rubella syndrome in Yogyakarta, Indonesia

Sriwahyuni E, Sriwahyuni E, Fuad A, Ahmad RA, Ahmad RA, Rustamaji R, et al.

Med J Malaysia, 2020 05;75(Suppl 1):41-47.
PMID: 32483106

INTRODUCTION: Rubella infection during early pregnancy may cause fatal consequences such as congenital rubella syndrome (CRS). The incidence rate (IR) of CRS confirmed cases in Yogyakarta, Indonesia between July 2008 and June 2013 was high at 0.05 per 1,000 live births. This study aimed to discover the spatiotemporal pattern of rubella and CRS and also identify whether the proximity of rubella cases was associated with the occurrence of CRS cases.
METHODS: This observational research used a spatiotemporal approach. We obtained CRS and rubella surveillance data from Dr. Sardjito Hospital, Provincial, and District Health Offices in Yogyakarta, Indonesia during January-April 2019. The home addresses of rubella and CRS cases were geocoded using the Global Positioning System. Average of the nearest neighbour and space-time permutation analyses were conducted to discover the spatiotemporal patterns and clusters of rubella and CRS cases.
RESULTS: The peak of rubella cases occurred in 2017 (IR: 22.3 per 100,000 population). Twelve confirmed cases of CRS were found in the 2016-2018 period (IR: 0.05 per 1,000 live births). The occurrence of CRS in Yogyakarta was detected 6-8 months after the increase and peak of rubella cases. The spatiotemporal analysis showed that rubella cases were mostly clustered, while CRS cases were distributed in a dispersed pattern. Rubella cases were found within a buffer zone of 2.5 km from any CRS case.
CONCLUSIONS: Rubella cases were spatiotemporally associated with the occurrence of CRS in Yogyakarta. We recommend strengthening the surveillance system of CRS and rubella cases in order to contain any further spreading of the disease.

Matched MeSH terms: Rubella Syndrome, Congenital/etiology; Rubella Syndrome, Congenital/epidemiology*
Duplication cyst with midgut volvulus in a neonate: an unusual presentation

Pai NG, Prabhu S, Prabhakar P, Kumar V

BMJ Case Rep, 2020 Aug 26;13(8).
PMID: 32847882 DOI: 10.1136/bcr-2020-235526

Incomplete intestinal fixation or malrotation of gut with midgut volvulus is one of the important causes of bilious vomiting in neonates. The incidence of malrotation of gut in population is 4% and that of duplication cyst is 1:4500. Patients with malrotation are prone to develop midgut volvulus due to their narrow mesenteric base demanding urgent surgical intervention. Common associated anomalies are intrinsic duodenal obstruction, internal hernias, caecal volvulus, anorectal malformations and Hirschsprung's disease. The present case refers to a 4-day-old neonate who presented with malrotation of gut with reverse volvulus and an associated gastrointestinal duplication cyst, which is a rare association with only few reported case reports. After imaging with ultrasound and contrast radiograph, the baby underwent prompt surgical intervention in the form of Ladd's procedure with resection and anastomosis of jejunal duplication cyst.

Matched MeSH terms: Cysts/congenital; Intestinal Diseases/congenital
Fulltext Limb reconstruction surgery with external fixators--university hospital experience

Aik S, Sengupta S

Med J Malaysia, 2000 Sep;55 Suppl C:86-92.
PMID: 11200049

We are describing 21 limb reconstruction procedures performed in 18 patients with the use of external fixators from 1996 to 1998. The average age of patients was 21, ranging from 1 to 50 years old. Indications for surgery included short limb, non-union, pseudoarthrosis and bone or soft tissue deformities. Average length obtained for cases of limb lengthening was 6 cm. All the seven clubfoot deformities in five children were fully corrected. Equinus deformity recurred in one foot and was treated with supramalleolar osteotomy. Out of the seven cases with infected nonunion and bone loss, three failed to achieve union and required additional bone grafting procedures. One patient with unilateral external fixator for the correction of tibia shortening developed valgus deformity.

Matched MeSH terms: Limb Deformities, Congenital/radiography; Limb Deformities, Congenital/surgery
Bilateral Norrie's disease in identical twins

Sukumaran K

Br J Ophthalmol, 1991 Mar;75(3):179-80.
PMID: 2012789

A case of Norrie's disease in an identical twins is reported. No positive family history was obtained. The couple had no other children. The older of the twins died at the age of 9 months of uncertain cause. To the best of my knowledge this is the first case of Norrie's disease reported in Malaysia. And its occurrence in an identical twins is very rare.

Matched MeSH terms: Blindness/congenital*; Retinal Detachment/congenital

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