MyMedR

Kannan TP, Hemlatha S, Ankathil R, Zilfalil BA

Indian J Pediatr, 2009 Jul;76(7):745-6.

PMID: 19475342 DOI: 10.1007/s12098-009-0158-2

Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.

Matched MeSH terms: Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/genetics*

Fulltext Congenital rubella syndrome in Malaysia

Tan DSK

Med J Malaysia, 1985 Mar;40(1):11-4.

PMID: 3831727

Of the five diseases generally recognised as causing congenital defects, viz., toxoplasmosis, rubella, cy tomegaloviral infection, herpes simplex and syphilis (TORCHES) studied in Malaysia, rubella was found to be the most important. A total of 574 children with features of congenital rubella syndrome (CRS) were examined for rubella-specific IgM (in infants four months and below), and for rubella HAl antibodies (in children six months to four-years-old), and compared with 374 normal children of the same age groups. Whereas the prevalence rate of rubella in normal children was only 1.3%, in children with CRS (multiple defects) it was 87.3%; with congenital heart disease 71.0%; with congenital cataract 64.0%; with deafness 60.1%; with rash 30.8%; with hepatomegaly 17.1%; with mental retardation 4.1 %. Congenital rubella was not important as a cause of neonatal jaundice (0.9%)
and CNS defects (0%).

Matched MeSH terms: Abnormalities, Multiple/etiology; Abnormalities, Multiple/epidemiology*

Fulltext Four siblings with congenital scoliosis and dysmorphism: a rare case of familial spondylocostal dysostosis

Sharina, M.K., Norliyana, M., Kamalnizat, I., Azmi, B., Mohd Hisam, M.A.

Medicine & Health, 2020;15(1):266-273.

MyJurnal

Skoliosis kongenital adalah perkembangan tulang belakang yang tidak normal yang merangkumi pembentukan sebahagian tulang sahaja, kurangnya pemisahan di antara tulang belakang atau kehilangan bahagian tertentu tulang belakang. Etiologi sebenar skoliosis kongenital masih tidak jelas. Walau bagaimanapun, ia dipengaruhi oleh kecenderungan genetik dan faktor persekitaran. Kami melaporkan siri kes skoliosis kongenital dengan ciri-ciri dismorfik dalam empat orang adik-beradik dan membincangkan mengenai sindrom spondylocostal dysostosis yang mempunyai kaitan dengan skoliosis kongenital. Ciri-ciri dismorfik termasuk hipertelorisme, ‘ptosis’ kedua-dua mata, 'high arch palate', langit-langit yang tinggi dan leher ‘webbed’. Pembedahan instrumentasi tulang belakang dilakukan dalam tiga adik beradik. Semua pesakit pulih dengan baik selepas pembedahan tanpa komplikasi kecederaan saraf. Rawatan susulan pada tahun pertama dan kedua selepas pembedahan menunjukkan tiada perubahan pada kadar lengkung dan tulang belakang telah bercantum.

Matched MeSH terms: Abnormalities, Multiple

Fulltext Effects of maltodextrin and trehalose on the physical properties of Chinese steamed bread made from frozen doughs

Sze-Yin, S., Lai-Hoong, C.

International Food Research Journal, 2013;20(4):1529-1535.

MyJurnal

The objective of this work was to study the effects of trehalose and maltodextrin on Chinese
steamed bread (CSB) prepared from frozen dough. Trehalose (0.1 and 0.2% w/w) and
maltodextrin (1 and 2% w/w) were added and CSB prepared from the fresh dough and the
frozen dough was characterized in terms of spread ratio, specific volume, staling index and
stress relaxation properties. Upon frozen storage, spread ratio and specific volume of CSB,
and elasticity of the bread crumb were reduced. The extend of deterioration was significantly
reduced with the addition of 0.1% trehalose and 2% maltodextrin. Excessive addition of
trehalose and maltodextrin was found to cause detrimental effects to CSB quality.

Matched MeSH terms: Abnormalities, Multiple

Fulltext A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

Bhuiyan ZA, Zilfalil BA, Hennekam RC

Singapore Med J, 2006 Aug;47(8):724-7.

PMID: 16865217

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene. Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient.

Matched MeSH terms: Abnormalities, Multiple/diagnosis*; Abnormalities, Multiple/genetics; Abnormalities, Multiple/physiopathology

Right heterotaxy with Hirschsprung's disease - a new association

Thambi Dorai CR, Hamzaini H, Rohana R

Clin Anat, 2010 May;23(4):455-9.

PMID: 20196129 DOI: 10.1002/ca.20949

A baby girl with prenatal diagnosis of complex cardiac anomalies and diaphragmatic hernia was born at 36 weeks of gestation. At 4 hr of life, the baby developed respiratory distress and was intubated. She was found to have right hetetrotaxy with total anomalous pulmonary venous drainage into the portal vein, five hepatic veins draining the liver and intrathoracic herniation of the stomach. The child also developed abdominal distension on the second day of life with passage of scanty meconium. The diagnosis of Hirschsprung's disease (HD) was confirmed by histology. HD in association with right heterotaxy has not been reported earlier. The association of heterotaxy with HD in our patient raises a possible genetic link between the two anomalies that needs further research.

Matched MeSH terms: Abnormalities, Multiple/pathology*

Fulltext The leopard (multiple lentigines) syndrome: a case report

Ting HC, Ng SC

Med J Malaysia, 1983 Jun;38(2):98-101.

PMID: 6621454

A case of the leopard (multiple lentigines) syndrome is described. To our knowledge this is the first documented case of this rare but interesting syndrome to be reported in this country.

Matched MeSH terms: Abnormalities, Multiple*

Goldenhar's syndrome

Fong HC, Vijendran M, Chandran S, Ng KK

Med J Malaysia, 1976 Jun;30(4):299-303.

PMID: 979732

Matched MeSH terms: Abnormalities, Multiple*

Fulltext Two cases of isochromosome 18q syndrome

Pal S, Siti MI, Ankathil R, Zilfalil BA

Singapore Med J, 2007 May;48(5):e146-50.

PMID: 17453088

Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be longer, hence a good cytogenetic diagnosis is a must. Morphological characteristics of isochromosome 18q are not yet fully delineated because of the rarity of the cases and as most cases are aborted medically or terminate spontaneously. We report two cases of isochromosome 18q, one male aged two years old and the other a male aged eight months old, and review the literature on this rare syndrome.

Matched MeSH terms: Abnormalities, Multiple/genetics

Common celiaco-mesenterico-phrenic trunk and renal vascular variations

Nayak S

Saudi Med J, 2006 Dec;27(12):1894-6.

PMID: 17143371

The knowledge of vascular variations like other anatomical variations, is important during the operative, diagnostic, and endovascular procedures in abdomen. This report describes multiple variations in the upper abdominal vessels as found during the routine dissection in a 60-year-old male cadaver. The variations found were; presence of a celiaco-mesenterico-phrenic trunk, a common inferior phrenic trunk, 2 right renal arteries originating from abdominal aorta, 2 suprarenal arteries originating from the lower right renal artery, 3 right renal veins opening separately into inferior vena cava, and termination of right testicular vein into the lowest vein among the 3 right renal veins. The existence of a celiaco-mesenterico-phrenic trunk has not been reported yet. Although, other variations reported in this case exist as individual variations, a concomitant variation of them has not been reported yet. The knowledge of such variations is quite useful in planning any upper abdominal surgery.

Matched MeSH terms: Abnormalities, Multiple*

Motor control on gait performance among individuals with lower crossed syndrome: A scoping review

Zahari Z, Naga DNA, Bukry SA

Med J Malaysia, 2024 Mar;79(Suppl 1):168-175.

PMID: 38555902

INTRODUCTION: Lower Cross Syndrome (LCS) is a prevalent condition that manifests as muscular tension due to the asymmetry in the strength of the lower extremity muscles. This imbalance could be due to the tautness of the iliopsoas, rectus femoris, tensor fascia latae, adductor group, gastrocnemius, and soleus muscles. LCS causes a postural imbalance in the individual, which triggers low back pain (LBP). When LCS is present alongside LBP, may cause the upper body to sway more in the transverse plane and at the lumbar level, making walking and termination of gait (GT) more difficult. However, the evidence of motor control and gait performance is scarce with inconclusive findings. Thus, this study aimed to review motor control on gait performance among individuals with lower crossed syndrome. This review is conducted to determine the motor control on gait performance in patients with LCS and how the conditions affect gait.

MATERIALS AND METHODS: The databases Google Scholar, Science Direct, ResearchGate, PubMed, and Scopus were searched to identify potentially relevant documents. The keywords used for the search included "motor control" OR "motor learning" OR" core stability" AND "lower crossed syndrome" AND "gait". The search includes articles published between 1970 and 2022 and written in English. It is excluded when the paper is not a full-text article. After finding the articles, the information was extracted, including author, year of publication, country, objective, type of study, and motor control analysis summary.

RESULTS: There were 107 articles retrieved from the search. but only seventeen articles were included for analysis. The finding demonstrates that LCS may associate with LBP and reduces the motor control of the core muscle stability which indirectly influences gait performance.

CONCLUSIONS: This study suggests that individuals with LCS will have an alteration in their gait. However, there is still insufficient information on motor control in gait performance among lower crossed syndrome. Further research is needed to find what factors that may contribute to the adaptation of motor control in gait among LCS population.

Matched MeSH terms: Abnormalities, Multiple*

A missed bilateral choanal atresia

Irfan M, Suzina SA

Ann Acad Med Singap, 2010 Jan;39(1):72.

PMID: 20126823

Matched MeSH terms: Abnormalities, Multiple

Unusual clinical features of foetal alcohol syndrome

Chaudhuri JD

J Indian Med Assoc, 2002 Feb;100(2):107-8, 110.

PMID: 12206352

Foetal alcohol syndrome (FAS) is a collection of signs and symptoms seen in children of women who consume alcohol during pregnancy. With the increasing incidence of FAS, there is a great variation of its clinical features different from that described in the standard textbooks. This article aims to report on the unusual clinical features of FAS. It also aims to explain the mechanism of action of alcohol as a teratogenic agent.

Matched MeSH terms: Abnormalities, Multiple/diagnosis*; Abnormalities, Multiple/etiology

Fulltext EEC syndrome with urogenital anomalies and compound naevus

Omar I, Jidon AJ

Med J Malaysia, 1993 Sep;48(3):364-8.

PMID: 8183155

Matched MeSH terms: Abnormalities, Multiple/pathology; Abnormalities, Multiple/therapy*

Fulltext Chilaiditi's syndrome presenting as acute abdomen

Hisham AN, Gunn A, Jamil AA

Med J Malaysia, 1995 Sep;50(3):281-3.

PMID: 8926911

Matched MeSH terms: Abnormalities, Multiple/diagnosis*; Abnormalities, Multiple/radiography

Hypoechoic liver in fetuses with trisomy 21

Omar PM, Lim WT, Ting YH, Lao TT, Law KM, Cheung AHK, et al.

J Matern Fetal Neonatal Med, 2019 Oct;32(19):3315-3317.

PMID: 29631451 DOI: 10.1080/14767058.2018.1459556

The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.

Matched MeSH terms: Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/pathology

Fulltext Mowat-Wilson syndrome: the first two Malaysian cases

Balasubramaniam S, Keng WT, Ngu LH, Michel LG, Irina G

Singapore Med J, 2010 Mar;51(3):e54-7.

PMID: 20428734

Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects. Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment. MWS was first described in 1998 by Mowat et al, and approximately 180 cases have been reported as of August 2008. The syndrome occurs as a result of heterozygous mutations or deletions in the zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). Most cases reported so far were sporadic occurrences; however, rare cases of sibling recurrence have been cited. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark, warranting ZEB2 mutational analysis even in the absence of Hirschsprung disease. We present the first two molecularly confirmed Malaysian MWS patients, one of whom has a novel mutation.

Matched MeSH terms: Abnormalities, Multiple/diagnosis*; Abnormalities, Multiple/genetics

Fulltext A rare case of ambiguous genitalia

Ng SF, Boo NY, Wu LL, Shuib S

Singapore Med J, 2007 Sep;48(9):858-61.

PMID: 17728969

Genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. However, genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on this process. Addition of X chromosomes to the 46,XY karyotype results in seminiferous tubules dysgenesis, hypogonadism and malformed genitalia. We report a term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis.

Matched MeSH terms: Abnormalities, Multiple/genetics*; Abnormalities, Multiple/pathology*

Duplication of lower lip and mandible--a rare diprosopus

Suhaili DN, Somasundaram S, Lau SH, Ajura AJ, Roslan AR, Ramli R

Int J Pediatr Otorhinolaryngol, 2011 Jan;75(1):131-3.

PMID: 21067822 DOI: 10.1016/j.ijporl.2010.10.004

Diprosopus or duplication of the lower lip and mandible is a very rare congenital anomaly. We report this unusual case occurring in a girl who presented to our hospital at the age of 4 months. Surgery and problems related to this anomaly are discussed.

Matched MeSH terms: Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/surgery

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay

Shuib S, Saaid NN, Zakaria Z, Ismail J, Abdul Latiff Z

Malays J Pathol, 2017 Apr;39(1):77-81.

PMID: 28413209 MyJurnal

Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS.

Matched MeSH terms: Abnormalities, Multiple/diagnosis*; Abnormalities, Multiple/genetics

Displaying publications 1 - 20 of 57 in total