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28 Possible Causes for Buccal Frenulae, Polydactyly, Ventricular Septal Defect

  • 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] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • 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] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

  • 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] [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] Polydactyly is the most frequent skeletal anomaly.[ncbi.nlm.nih.gov]

  • 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] 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] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov]

  • 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] 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] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com]

  • 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] 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] […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com]

  • Curry Hall Syndrome

    On the other hand, cleft palate, hypertelorism, micrognathia, low-set eyes, prominent heels, and ventricular septal defect (VSD) were present.[glowm.com] These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org] Postaxial foot polydactyly MedGen UID: 384489 • Concept ID: C2112129 • Finding Polydactyly of the foot most commonly refers to the presence of six toes on one foot.[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    septal defects  Dysphagia  Psychomotor delays  Beak shaped nose  Hypertelorism/ptosis  Kyphosis  Pectus excavatum  Cryptorchidism 151 152.[de.slideshare.net] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] […] of the left hand, wide halluces Postaxial polydactyly of both hands, preaxial polydactyly of both feet Postaxial polydactyly of both hands, bifid halluces, bifid right fifth[ncbi.nlm.nih.gov]

  • 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] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability[ncbi.nlm.nih.gov]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia 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] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] polydactyly that can help you solving undiagnosed cases.[mendelian.co]

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