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Cebocephaly--a case report

Chan Ying Fatt

Dent J Malaysia Singapore, 1969 May;9(1):47-50.
PMID: 5258334
Matched MeSH terms: Abnormalities, Multiple
Fulltext Effect of Sand Fines Concentration on the Erosion-Corrosion Mechanism of Carbon Steel 90° Elbow Pipe in Slug Flow

Khan R, H Ya H, Pao W, Majid MAA, Ahmed T, Ahmad A, et al.

Materials (Basel), 2020 Oct 16;13(20).
PMID: 33081078 DOI: 10.3390/ma13204601

Erosion-corrosion of elbow configurations has recently been a momentous concern in hydrocarbon processing and transportation industries. The carbon steel 90° elbows are susceptible to the erosion-corrosion during the multiphase flow, peculiarly for erosive slug flows. This paper studies the erosion-corrosion performance of 90° elbows at slug flow conditions for impact with 2, 5, and 10 wt.% sand fines concentrations on AISI 1018 carbon steel exploiting quantitative and qualitative analyses. The worn surface analyses were effectuated by using laser confocal and scanning electron microscopy. The experiment was conducted under air and water slug flow containing sand fines of 50 µm average size circulated in the closed flow loop. The results manifest that with the increase of concentration level, the erosion-corrosion magnitude increases remarkably. Sand fines instigate the development of perforation sites in the form of circular, elongated, and coalescence pits at the elbow downstream and the corrosion attack is much more obvious with the increase of sand fines concentration. Another congruent finding is that cutting and pitting corrosion as the primitive causes of material degradation, the 10 wt.% sand fines concentration in carrier phase increases the erosion-corrosion rate of carbon steel up to 93% relative to the 2 wt.% sand fines concentration in slug flow.

Matched MeSH terms: Abnormalities, Multiple
Fulltext Multiple supernumerary teeth in a child with Rubinstein-Taybi syndrome: a rare feature

Marimuthoo, Thavamalar, Sockalingam,S. Nagarajan M.P.

Archives of Orofacial Sciences, 2014;9(1):1-5.
MyJurnal

Rubinstein-Taybi syndrome is a multiple anomalies congenital disorder characterised by broad thumb and halluces, facial dysmorphism with mental and growth retardation. Oral features include small mouth, retro and micronagthic jaws, highly arched and narrow palate. Dental anomalies such as teeth with talon cusps and screwdriver shaped permanent incisors together with crowded teeth are common features in these patients. Although hyperdontia is said to be one of the features of this condition, nevertheless, presence of multiple supernumerary teeth has never been documented. This report highlighted a case of an eleven-year-old boy with Rubinstein-Taybi syndrome referred for unerupted permanent incisors who exhibited multiple supernumerary teeth radiographically.

Matched MeSH terms: Abnormalities, Multiple
Inhibitive behaviour of corrosion of aluminium alloy in NaCl by mangrove tannin

Solhan Yahya, Afidah Abdul Rahim, Affaizza Mohd Shah, Rohana Adnan

Sains Malaysiana, 2011;40.

Anticorrosion potential of mangrove tannins on aluminium alloys AA6061 in NaCl solution has been studied using potentiodynamic polarisation method and scanning electron microscopy (SEM). The study was carried out in different pH of corrosive medium in the absence and presence of various concentrations of tannin. The corrosion inhibition behaviour of the mangrove tannin on AA6061 aluminium alloy corrosion was found to be dependant on the pH of NaCl solution. Our results showed that the inhibition efficiency increased with increasing tannins concentration in chloride solution at pH 6. Treatment of aluminium alloy 6061 with all concentrations of mangrove tannins reduced the current density, thus decreased the corrosion rate. Tannins behaved as mixed inhibitors at pH 6 and reduction in current density predominantly affected in cathodic reaction. Meanwhile, at pH 12, addition of tannins shifted the corrosion potential to more cathodic potentials and a passivating effect was observed in anodic potentials. SEM studies have shown that the addition of tannins in chloride solution at pH 12 reduced the surface degradation and the formation of pits.

Matched MeSH terms: Abnormalities, Multiple
De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features

Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R, Naili Muhamad Nor N, Zilfalil BA

Cytogenet Genome Res, 2011;134(2):83-7.
PMID: 21447942 DOI: 10.1159/000325541

Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues.

Matched MeSH terms: Abnormalities, Multiple/genetics
De novo ring chromosome 6 in a child with multiple congenital anomalies

Ahzad HA, Ramli SF, Loong TM, Salahshourifar I, Zilfalil BA, Yusoff NM

Kobe J Med Sci, 2010;56(2):E79-84.
PMID: 21063149

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality.

Matched MeSH terms: Abnormalities, Multiple/genetics*
Multiple arterial, neural and muscular variations in upper limb of a single cadaver

Vollala VR, Nagabhooshana S, Bhat SM, Potu BK, Rodrigues V, Pamidi N

Rom J Morphol Embryol, 2009;50(1):129-35.
PMID: 19221659

During routine dissection classes to undergraduate medical students, we have observed some important anatomic variations in the right upper limb of a 45-year-old cadaver. The anomalies were superficial ulnar artery, persistent median artery, variant superficial palmar arch, third head for biceps brachii, accessory head for flexor pollicis longus, variant insertion of pectoralis major, absence of musculocutaneous nerve, coracobrachialis muscle supplied by lateral root of median nerve and anomalous branching of median nerve in arm and forearm. Although there are individual reports about these variations, the combination of these variations in one cadaver has not previously been described in the literature consulted. Awareness of these variations is necessary to avoid complications during radiodiagnostic procedures or surgeries in the upper limb.

Matched MeSH terms: Abnormalities, Multiple/pathology*
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report

Sulaiman AR, Nawaz H, Munajat I, Sallehudin AY

J Orthop Surg (Hong Kong), 2007 Apr;15(1):84-6.
PMID: 17429125

We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported before as a manifestation of Antley-Bixler syndrome. Her mother was exposed to radiation during an intravenous urogram done in the first trimester of pregnancy. Exposure to radiation has not been implicated as a cause of Antley-Bixler syndrome.

Matched MeSH terms: Abnormalities, Multiple/diagnosis*
Surgery for doubly committed ventricular septal defects

Shamsuddin AM, Chen YC, Wong AR, Le TP, Anderson RH, Corno AF

Interact Cardiovasc Thorac Surg, 2016 Aug;23(2):231-4.
PMID: 27170744 DOI: 10.1093/icvts/ivw129

OBJECTIVES: Doubly committed ventricular septal defects (VSDs) account for up to almost one-third of isolated ventricular septal defects in Asian countries, compared with only 1/20th in western populations. In our surgical experience, this type of defect accounted for almost three-quarters of our practice. To date, patch closure has been considered the gold standard for surgical treatment of these lesions. Our objectives are to evaluate the indications and examine the outcomes of surgery for doubly committed VSDs.
METHODS: Between October 2013, when our service of paediatric cardiac surgery was opened, and December 2014, 24 patients were referred for surgical closure of VSDs. Among them, 17 patients (71%), with the median age of 6 years, ranging from 2 to 9 years, and with a median body weight of 19 kg, ranging from 11 to 56 kg, underwent surgical repair for doubly committed defects. In terms of size, the defect was considered moderate in 4 and large in 13. Aortic valvular regurgitation (AoVR) was present in 11 patients (65%) preoperatively, with associated malformations found in 14 (82%), with 5 patients (29%) having two or more associated defects.
RESULTS: After surgery, there was trivial residual shunting in 2 patients (12%). AoVR persisted in 6 (35%), reducing to trivial in 5 (29%) and mild in 1 (6%). Mean stays in the intensive care unit and hospital were 2.6 ± 1.2 days, ranging from 2 to 7 days, and 6.8 ± 0.8 days, ranging from 6 to 9 days, respectively. The mean follow-up was 14 ± 4 months, ranging from 6 to 20 months, with no early or late deaths and without clinical deterioration.
CONCLUSIONS: The incidence of doubly committed lesions is high in our experience, frequently associated with AoVR and other associated malformation. Early detection is crucial to prevent further progression of the disease. Patch closure remains the gold standard in management, not least since it allows simultaneous repair of associated intracardiac defects.

Matched MeSH terms: Abnormalities, Multiple*
Fulltext Ectrodactary, ectodermal dysplasia, and cleft lip-palate syndrome

Choong YY, Norazlina B

Med J Malaysia, 2001 Mar;56(1):88-91.
PMID: 11503303

The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.

Matched MeSH terms: Abnormalities, Multiple/therapy*
Type IV laryngotracheo-oesophageal cleft--management of a difficult airway

Lim SK, Fadhilah T, Ibtisan I

Paediatr Anaesth, 1998;8(4):337-40.
PMID: 9672933

Congenital laryngotracheo-oesophageal cleft is a rare anomaly which presents a challenge to the anaesthetists because of the potential problems of establishing and maintaining an airway. We report the anaesthetic management of a one-month old baby with complete or type IV laryngotracheo-oesophageal presenting for the repair of the defect. The management of the precarious airway is presented and the various techniques of managing the airway are reviewed.

Matched MeSH terms: Abnormalities, Multiple/surgery*
Potential toxicity effects of Anastatica hierochuntica aqueous extract on prenatal development of Sprague-Dawley rats

Md Zin SR, Kassim NM, Mohamed Z, Fateh AH, Alshawsh MA

J Ethnopharmacol, 2019 Dec 05;245:112180.
PMID: 31445135 DOI: 10.1016/j.jep.2019.112180

ETHNOPHARMACOLOGICAL RELEVANCE: Anastatica hierochuntica (A. hierochuntica) is a plant consumed in folk medicine for the treatment of reproductive system related problems and metabolic disorders. It is of concern that the herb is commonly consumed by pregnant women towards the end of pregnancy to ease the process of labour, despite the lack of studies evaluating its safety.
AIM OF THIS STUDY: This study aimed to investigate the potential toxicity effects of A. hierochuntica in pregnant Sprague-Dawley rats and their developing foetuses.
MATERIALS AND METHODS: Experiments were conducted in accordance to the Organisation for Economic Co-operation and Development guideline 414. Animals were randomly divided into four groups (n = 10 females per group): negative control (received the vehicle only), experimental animals received 250, 500, and 1000 mg/kg A. hierochuntica aqueous extracts (AHAE), respectively. Treatment was administered daily by oral gavage from gestational day (GD) 6-20, and caesarian section performed on GD21.
RESULTS: There were significant reduction in the corrected maternal weight gain of dams and body weight of foetuses in the lowest and highest dose of AHAE-treated animals compared to the control. These findings were associated with the increase in anogenital distance index and multiple congenital anomalies observed in some of the offspring. On the other hand, rats treated with 500 mg/kg showed higher embryonic survival rate with absence of significant treatment-related effect.
CONCLUSION: Findings showed that highest and lowest doses of AHAE have prenatal toxicity effects in SD rats. Therefore, AHAE is potentially harmful to the developing foetuses especially when consumed during the period of implantation and organogenesis. As for the rats treated with 500 mg/kg AHAE, there was no significant treatment-related effect. Hence, we postulate that this finding suggests that the disruption on the hormonal regulation could have been compensated by negative feedback response. The compensated effects of AHAE at 500 mg/kg and the presence of lowest observed adverse effect level (LOAEL) at 250 mg/kg has resulted in a non-monotonous dose response curve (NMDRC), which complicates the determination of the value of no-observed-adverse effect level (NOAEL).

Matched MeSH terms: Abnormalities, Multiple/chemically induced*
A rare case of unilateral postaxial duplicated foot in a developmentally normal child

Sahdi H, Hoong CW, Rasit AH, Arianto F, Siong LK, Abdullah NA

J Orthop Surg (Hong Kong), 2017 01;25(1):2309499016684989.
PMID: 28166702 DOI: 10.1177/2309499016684989

Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities. Here, we present an unusual case of isolated diplopodia involving postaxial toes in a child with no other organ and physical abnormalities. Radiological studies revealed a set of 10-digit-duplicated foot over the lateral aspect of the native foot, complete with phalanges and its corresponding metatarsals as well as tarsals, supplied by an anomalous posterior branch of the popliteal artery. Definitive surgery was performed just before the child was learning to walk.

Matched MeSH terms: Abnormalities, Multiple*
Polycystic kidneys and liver in two siblings with other severe congenital abnormalities

Tan KL, Thomas MA

Med J Malaya, 1970 Sep;25(1):46-9.
PMID: 4249495
Matched MeSH terms: Abnormalities, Multiple/genetics*
Fulltext Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation

Mdzin R, Ko C, Abdul Latif Z, Zakaria Z

Singapore Med J, 2008 Nov;49(11):e336-9.
PMID: 19037546

Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

Matched MeSH terms: Abnormalities, Multiple/genetics
Fulltext Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation

Afroze B, Ngu LH, Roziana A, Aminah M, Noor Shahizan A

Singapore Med J, 2008 Dec;49(12):e372-4.
PMID: 19122939

Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, preauricular tags or sinus, cleft palate or high arch palate, microganathia, renal anomalies, congenital cardiac defects and genital abnormalities in males. In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a female neonate, of supernumerary derivative (22) syndrome from Malaysia.

Matched MeSH terms: Abnormalities, Multiple/genetics*
Fulltext A neonate with ectodermal dysplasia ectrodactyly clefting syndrome and ventricular septal defect

Ram SP, Noor AR, Ariffin WA, Ariffin NA

Singapore Med J, 1994 Apr;35(2):205-7.
PMID: 7939823

A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed absent radii, cardiomegaly and hemivertebra at L1. Echocardiogram revealed perimembranous type of ventricular septal defect. A diagnosis of Ectodermal Dysplasia Ectrodactyly Clefting Syndrome with ventricular septal defect was made. He was managed conservatively in the nursery. However, he expired on day 27 of life following short spell of fever apnoeic episode due to neonatal sepsis.

Matched MeSH terms: Abnormalities, Multiple/genetics*
Caudal regression syndrome associated with obstructive genital tract anomaly

Harun MHH, Mohd Nor NF, Ramli R

BMJ Case Rep, 2024 Jul 30;17(7).
PMID: 39079904 DOI: 10.1136/bcr-2024-261142

Transverse vaginal septum (TVS) is a rare obstructive genital tract anomaly. It is associated with primary amenorrhoea and typically presents with cyclical abdominal pain due to obstruction of the menstrual flow. Caudal regression syndrome (CRS) is also a rare congenital anomaly that is frequently associated with anomalies of the neurological, musculoskeletal, cardiac, genitourinary and gastrointestinal systems. Obstructive genital tract anomaly in CRS is exceptionally rare. This report describes the case of a girl in early adolescence with underlying CRS who presented with severe abdominal pain associated with primary amenorrhoea. Clinical and radiological assessment revealed 'haematocolpos' manifesting as a tender 20 weeks' size abdominal mass and an absent vaginal opening. TVS was identified during examination under anaesthesia. The patient subsequently underwent a successful vaginoplasty with no recurrence of symptoms after 2 years.

Matched MeSH terms: Abnormalities, Multiple/surgery
Congenital limb reduction defects: report of two cases

Malik AS, Ram SP, Seng QB, Noor AR

Ann Acad Med Singap, 1994 Nov;23(6):914-6.
PMID: 7741513

We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.

Matched MeSH terms: Abnormalities, Multiple/ethnology*
Fulltext Turner syndrome in diverse populations

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, et al.

Am J Med Genet A, 2020 Feb;182(2):303-313.
PMID: 31854143 DOI: 10.1002/ajmg.a.61461

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

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

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