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221 Possible Causes for Congenital Malformation, Sloping Shoulders

  • Trisomy 20

    Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant[ncbi.nlm.nih.gov] malformations 4 References (Supplied by CrossRef) Non-mosaic trisomy 20 in cultures of amniotic fluid from a fetus with serious congenital malformation Hsieh et al.[pubfacts.com] shoulders, and significant learning disabilities despite normal intelligence. [2] Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops[rarediseases.info.nih.gov]

  • CHARGE Syndrome

    Although certain clinical issues (scapular winging, sloping shoulder, Sprengel's deformity, kyphosis and scoliosis) which could be related to abnormalities in musculoskeletal[ncbi.nlm.nih.gov] The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin.[ncbi.nlm.nih.gov] Feature Includes Frequency Chronic Ear Problems Lots of infections, fluid in the ears, PE tubes until teens 85% Sloping Shoulders Underdeveloped shoulder muscles, small or[chargesyndrome.org]

  • Holt Oram Syndrome

    shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.[ncbi.nlm.nih.gov] One affected relative had complex congenital malformations of the heart consisting of an endocardial cushion defect and hypoplasia of the left ventricle.[ncbi.nlm.nih.gov] […] development of the radial, carpal, and thenar bones Abnormal forearm pronation and supination Triphalangeal or absent thumbs Possible abnormal opposition of thumb Possible sloping[chdbabies.com]

  • Frontonasal Dysplasia

    shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] Frontonasal dysplasia (FND) is a congenital malformation characterized by hypertelorism, broad nasion with a midline cleft in the bony dorsum, midline defect of the frontal[ncbi.nlm.nih.gov] Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and[ncbi.nlm.nih.gov]

  • Gorlin Syndrome

    shoulders strabismus vertebral anomalies Comment In this disorder, multiple nevoid basal cell cancers (NBCC) typically start to appear at the age of puberty, although they[familialcancerdatabase.nl] GS is associated with congenital malformations and predisposition to neoplasms.[ncbi.nlm.nih.gov] Nevoid basal cell carcinoma (NBCC) syndrome is an autosomal dominant disorder characterized by distinctive congenital malformations and a variety of benign and malignant neoplasms[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] Nevertheless, some congenital malformations have been reported more frequently in KS patients than in normal population.[clinicaladvisor.com] Congenital heart malformations occur in several genetic syndromes reflecting the multiple genes involved in the development of the cardiovascular system (syndromic CHD).[centogene.com]

  • Microphthalmia Type Lenz

    Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov] Introduction Microphthalmia is a congenital malformation in which the volume of the ocular bulb is reduced.[sboportal.org.br] Long cylindric thorax with sloping, narrow shoulders, underdeveloped clavicles, or thinning of the lateral third of the clavicles on x-ray as well as kyphoscoliosis and exaggerated[ncbi.nlm.nih.gov]

  • Cleidocranial Dysplasia

    shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] Cleidocranial dysplasia (CCD) is a rare congenital malformation syndrome, inherited autosomal-dominantly.[ncbi.nlm.nih.gov] […] alveolar dysplasia) is a very rare congenital malformation involving abnormal development of the capillary vascular system around the alveoli of… … Wikipedia Craniodiaphyseal[medicine.academic.ru]

  • Arteriovenous Malformation

    […] gently into his shoulders, then on along the same angle into a lumpy, tactful indistinctness.[nytimes.com] Congenital arteriovenous malformations (AVM) of the internal mammary artery (IMA) are exceptionally rare.[ncbi.nlm.nih.gov] congenital malformations of circulatory system Q28.9 Congenital malformation of circulatory system, unspecified Q30 Congenital malformations of nose Q30.0 Choanal atresia[icd10data.com]

  • Congenital Exomphalos

    shoulders Hypoplastic iliac wing Hydrocele testis Exocrine pancreatic insufficiency Prolactin excess Polycythemia Inverted nipples Secondary amenorrhea Short fourth metatarsal[mendelian.co] […] system 5 Congenital malformations of the respiratory system (Q30-Q34) 5.1 Q30 Congenital malformations of nose 5.2 Q31 Congenital malformations of larynx 5.3 Q32 Congenital[embryology.med.unsw.edu.au] Risk of congenital malformations Adequate treatment of hyperthyroidism in pregnant women prevents serious maternal and foetal complications.[gov.uk]

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