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30 Possible Causes for Asymmetric Nipples, Cardiomyopathy, Short Neck

  • Noonan Syndrome

    Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation[ncbi.nlm.nih.gov] In addition, nipples were wide-spaced and appeared to be low-set. On genital examination, testicles appeared to be small.[jiaomr.in]

  • Monosomy 1p36 Syndrome

    However, some features seen in at least one of the four reported patients were not observed in our patient, including large anterior fontanelle, brachycephaly, short neck,[enlivenarchive.org] […] left ventricular noncompaction cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM).[edoc.mdc-berlin.de] Common features include mental retardation, characteristic dysmorphic features, hypotonia, seizures, hearing loss, heart defects, cardiomyopathy, and behavior abnormalities[einstein.pure.elsevier.com]

  • Neurofibromatosis-Noonan Syndrome

    He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis.[ncbi.nlm.nih.gov] Hypertrophic cardiomyopathy. RAS-MAPK genes.[revespcardiol.org] At age 10.5 months, she was noted to have plagiocephaly, facial asymmetry with left side smaller than the right, webbed neck, asymmetric chest with widely spaced nipples,[genome.jp]

  • Velocardiofacial Syndrome

    […] and crowded teeth, short broad neck and shield chest with pectus deformity and widely spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb[ncbi.nlm.nih.gov] […] with abnormal fat distribution, heart defect, scoliosis, asymmetric limb development, abnormal hands and feet, and hyperchromic skin patches.[ncbi.nlm.nih.gov] The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia[ncbi.nlm.nih.gov]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] capsule and caudate and functions as a relay station between the cerebral cortex and the brainstem and spinal cord thunderclap headache sudden onset of severe head pain with neck[strokecenter.org] , Congestive: (see Cardiomyopathy, Dilated) Cardiomyopathy, Dilated: 0.12, 0.25, 20.00, 125.16, 377.91, 414.17, 515.17, 683.00, 712.00, 993.41, Cardiomyopathy, Hypertrophic[drhuldaclarkzappers.wordpress.com] Stevenson ; Introduction ; 33.1 Amastia-Hypomastia ; 33.2 Enlarged Breasts ; 33.3 Supernumerary Nipples ; 33.4 Widely Spaced Nipples ; 33.5 Gynecomastia ; Chapter 34 Asymmetric[geneeskundeboek.nl]

  • Malpuech Syndrome

    ]; Short neck; Webbed neck CARDIOVASCULAR: [Heart]; Atrial septal defect (less common); [Vascular]; Patent ductus arteriosus (less common) CHEST: [External features]; Widely[findzebra.com] Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features Sillence syndrome Urogenital adysplasia MOGS-CDG (CDG-IIb) Familial Mediterranean fever Cardiomyopathy[checkrare.com] Twenty-five (21.4%) subjects had hypertelorism or pseudohypertelorism, 11/117 (9.4%) had micrognathia, 8/117 (6.8%) had microstomia, and 8/117 (6.8%) had a short neck.[jmg.bmj.com]

  • Anorchia

    […] stature, webbed neck, hypertelorism, ptosis, low posterior hairline, low-set ears, pectus excavatum, cryptorchidism, valvular pulmonary stenosis, lymphedema, and bleeding[emedicine.medscape.com] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org] […] discharge Axillary lymphadenopathy Nonpainful mass (pain more common in gynecomastia) Often unilateral Personal history of malignancy Lipoma 0.9 to 2.9 Asymmetric breast[aafp.org]

  • Congenital Aural Atresia

    Symptoms Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck,[familydiagnosis.com] Waardenburg syndrome type II and dilated cardiomyopathy in a child. Pediatr Int 2006;48:100-2. [ PUBMED ] [ FULLTEXT ] 10. Goodman RM, Oelsner G, Berkenstadt M, Admon D.[indianjotol.org] Stevenson ; Introduction ; 33.1 Amastia-Hypomastia ; 33.2 Enlarged Breasts ; 33.3 Supernumerary Nipples ; 33.4 Widely Spaced Nipples ; 33.5 Gynecomastia ; Chapter 34 Asymmetric[amazon.de]

  • Congenital Malformation Syndromes Predominantly Involving Limbs

    External examination showed the absence of cranial vault, bulging eyes, cleft palate, flat nose, low set and malformed ears, along with a short neck. [8] In our case reported[journals.lww.com] Reported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block.[ncbi.nlm.nih.gov] , cranial arteriovenous malformation, congenital heart defects, skin tags, supernumerary nipples, and woolly hair.[emedicine.medscape.com]

  • Acro-Pectoral Syndrome

    […] femoral neck Decreasing inter pedicular distance from L1 to L5 Pedicles also short canal stenosis in 40 - 50% Foramen Magnum small and funnel shaped Can be diagnosed in utero[flinders.edu.au] Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly.[emedicine.medscape.com] Examination revealed hypoplastic/aplastic left breast with absence of the nipple-areola complex, lack of subcutaneous fat and axillary hair, absent anterior axillary fold[japi.org]

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