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26 Possible Causes for Congenital Ear Deformity, Echogenic Kidneys, small

  • Patau Syndrome

    The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short[] This includes scalp defects, coloboma, hypertelorism, cleft lip, cleft palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture[] Approximately 40% of fetuses with trisomy 13 have echogenic intracardiac foci. [4] 30% of the affected fetuses have enlarged echogenic kidneys similar t o polycystic kidneys[]

  • Congenital Vascular Anomalies of the Kidney

    This may not always work, because in small children the amount of contast may be too small to trigger or due to breathing the cursor may fall to the lungs.[] US of CDKs shows large echogenic kidneys with poor corticomedullary differentiation.[] The latter usually requires advancement of a small catheter (tube) through the arteries in the groin and an injection of contrast dye.[]

  • Meckel-Gruber Syndrome

    In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm.[] , bilateral talipes, syndactyly, micropenis, situs inversus , congenital heart defect inc. dextrocardia, short femurs and short spindle-shaped tibiae, deformed tongue 264[] In utero (and early neonatal life) multicystic renal disease is usually evident as enlarged echogenic kidneys : demonstration of physical cysts within the kidneys only occurs[]

  • Arthrogryposis Multiplex Congenita

    […] jaw Small lower jaw [ more ] 0000347 Pierre-Robin sequence 0000201 5%-29% of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of[] Crumpled ears. DA10 187370 2q31.3-q32.1 Type 10 Congenital plantar contractures tendon calcaneus. Toe-walking gait.[] High serum urea level and ultrasonic finding of highly echogenic kidneys are evidence to suggest renal dysfunction in this child (6).[]

  • Atresia of Urethra

    In one instance of this kind, in the case of a woman forty-six years old, the common urinary and vaginal orifice lay small and contracted underneath the symphysis.[] […] canal or failure of the canal to be tubular or fully formed [6] (can be related to Microtia, a congenital deformity of the pinna, or outer ear).[] There is cystic dysplasia of the right kidney, manifested by peripheral cysts (arrows) and increased parenchymal echogenicity.[]

  • Velocardiofacial Syndrome

    Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.[] Other features with lower frequencies were ear deformities, conductive hearing disturbance, exotropia, cleft lip, tooth hypocalcification, congenital odontosteresis, brachydactyly[] These included single kidney, echogenic kidney, multicystic dysplastic kidney/small kidneys, calculi, bladder wall thickening, horseshoe kidney, duplicated collecting system[]

  • Congenital Exomphalos

    Ultrasonography showed a 2.5-cm abdominal wall defect with a small bowel loop emerging through it and lying within the sac.[] malformations of ear causing impairment of hearing 3.8 Q17 Other congenital malformations of ear Excl.: preauricular sinus (Q18.1) 3.9 Q18 Other congenital malformations[] In trisomy 13, common defects include holoprosencephaly and associated facial abnormalities, microcephaly, cardiac and renal abnormalities (often enlarged and echogenic kidneys[]

  • Renal Coloboma Syndrome

    The kidney abnormalities consist of small and abnormally formed kidneys known as renal hypodysplasia.[] Code Classification Congenital malformations, deformations and chromosomal abnormalities ( Q00-Q99 ) Congenital malformations of eye, ear, face and neck ( Q10-Q18 ) Congenital[] Ultrasound increased echogenicity of the liver parenchyma, collateral vessels and splenomegaly due to portal hypertension. increased echogenicity of the kidneys' pyramids.[]

  • Familial Congenital Nasolacrimal Duct Obstruction

    They can be seen externally as small orifices or pits characteristically located inferior and/or medial to the medial canthi.[] Small, deformed, or low-set auricles may indicate associated congenital defects,especially renal disease.[] Go To DDX Back to Chapters Copyright 2015 dgk Consulting Findings: A large echogenic mass is seen, which arises from the right kidney.[]

  • Congenital Bilateral Absence of Vas Deferens

    […] kidneys SALL1 Absent kidneys FGFR1/FGFR2 Absent kidneys SLIT3 Small or absent kidneys PBX1 Small or absent kidneys FGF8 Small kidneys RARA/RARB2 Small kidneys LIM1 Absent[] Congenital Atresia Congenital artesia can occur without the usual congenital abnormalities of the external ear.[] At 20 weeks, the kidneys show a hyperechoic capsule and the cortical area is slightly more echogenic than the medulla.[]

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