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623 Possible Causes for Congenital Heart Disease, Round Face

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder. METHODS: We treated 10 patients with mucopolysaccharidosis I[…][]

  • Mucopolysaccharidosis 2

    Summary Epidemiology Prevalence at birth in Europe is 1/166,000. It is an X-linked recessive disorder; very rare cases of female presentation have been reported. Clinical description MPS2 patients appear healthy at birth, with initial symptoms appearing between 18 months and 4 years of age. Macrocephaly develops[…][]

  • Mucopolysaccharidosis 1

    Summary Epidemiology Prevalence is estimated at 1/100,000, with Hurler syndrome accounting for 57% of cases, Hurler-Scheie syndrome accounting for 23% of cases and Scheie syndrome accounting for 20% of cases. Clinical description In the severe form (Hurler syndrome or MPS I-H; see this term) skeletal deformities[…][]

  • Marfan Syndrome

    In 2013, a strange and creepy screen test started making the rounds in Hollywood.[] Colorado Fetal Care Center Colorectal and Urogenital Care Heart Complex Congenital Heart Disease & Development Clinic Orthopedics Concussion Program Surgery Craniofacial[] The Adult Congenital Heart Disease Program shared by Seattle Children’s and the University of Washington can help with care throughout your child’s life.[]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] Congenital heart disease and its related symptoms, heart murmur. Speech delay. Abnormal facies: cleft palate, micrognathia, ear abnormalities.[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[]

  • Aarskog Syndrome

    face with widow's peak and, in one of them, ptosis of the eyelids.[] We therefore propose that all patients with Aarskog syndrome be screened for congenital heart disease.[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[] heart disease and Down syndrome.[] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[]

  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[] Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities.[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[]

  • Pierre Robin Syndrome

    round face - - Micrognathia - - - - - - - - - - - - - - Bilateral inguinal hernia - - - - - - - - - - - - - - Hand anomalies - Foot abnormality - - - - - Congenital heart[] Congenital heart disease occurs in about 20 percent of patients with Pierre Robin syndrome.[] There are often signs of congenital heart disease, such as atrial septal defect (ASD), patent ductus arteriosus, ventricular septal defect (VSD).[]

  • Barth Syndrome

    Pathologic Processes Heart Defects, Congenital Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Abnormalities, Multiple Congenital Abnormalities Genetic[] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[]

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