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25 Possible Causes for Buccal Frenulae, Failure to Thrive, Ventricular Septal Defect

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] of the ventricular septum, view from the right ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72367) Defect of the ventricular septum, view from[atlases.muni.cz] […] to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems[aafp.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Smith Lemli Opitz Syndrome

    Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.[ncbi.nlm.nih.gov] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] Cardiovascular anomalies (atrial and ventricular septal defects, patent ductus arteriosus, atrioventricular canal) can be present.[orpha.net]

  • Growth Failure

    Twin A was born with hypospadias and a small ventricular septal defect.[ahajournals.org] Presentation on theme: "Faltering growth(failure to thrive)"— Presentation transcript: 1 Faltering growth(failure to thrive) refers to not only failure of growth(suboptimal[slideplayer.com] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

  • Ellis-Van Creveld Syndrome

    On cardiac evaluation, ventricular septal defect was found. There were no neonatal teeth. A diagnosis of EVC syndrome was made based on the findings.[ncbi.nlm.nih.gov] We discuss this potentially serious condition with congenital heart malformations that can result in failure to thrive and even death if not recognized early.[ncbi.nlm.nih.gov] [Figure 3] and [Figure 4], serrations of the alveolar ridge were observed distally to the upper central incisors [Figure 5], obliteration of both buccal and labial vestibule[drjjournal.net]

  • Baller-Gerold Syndrome

    Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic[ncbi.nlm.nih.gov] […] of the radius 0006501 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Brachyturricephaly High, prominent forehead 0000244 Failure[rarediseases.info.nih.gov] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Pallister-Hall Syndrome

    septal defect patent ductus arteriosus proximal aortic coarctation respiratory system anomalies laryngeal cleft bifid or hypoplastic epiglottis ab normal lung lobation thoracic[humpath.com] […] to thrive cyanosis regurgitation/reflux DIFFERENTIAL DIAGNOSIS laryngomalacia vocal cord paralysis laryngopharyngeal reflux disease neuromuscular swallowing disorder reactive[laryngeal-cleft.com] Reported congenital heart defects include patent ductus arteriosus, ventricular septal defect, endocardial cushion defect, mitral and aortic valve defects, and proximal aortic[ajnr.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    septal defect).[hawaii.edu] […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Pallister W Syndrome

    The most common defects are Atrioventricular Septal Defect (formally called Endocardial Cushion Defect), Ventricular Septal Defect, Persistent Ductus Arteriosus and Tetralogy[ndss.org] […] main genetic causes and other rarer cause of PWS all involving chromosome 15 give rise to a pattern of atypical early development characterised by extreme floppiness and failure[ipwso.org] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Simpson Dysmorphia Syndrome

    […] including pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia[medical-dictionary.thefreedictionary.com] Severe X-linked mitochondrial encephalomyopathy Severe congenital nemaline myopathy Severe early-onset axonal neuropathy due to MFN2 deficiency Severe feeding difficulties-failure[se-atlas.de] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • X-Linked Mandibulofacial Dysostosis

    Typically atrial and/or ventricular septal defect 6. Typically proximally placed; uncommonly, preaxial polydactyly or hypoplasia 7.[ncbi.nlm.nih.gov] […] to thrive, Growth retardation, Congenital malformations (30%-50%) 1:100,000 and 1:200,000 Age of onset: 1 year Dyserythropoietic anemia COX4I2, C15orf41, KIF23, KLF1 Moderate[centogene.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

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