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94 Possible Causes for Hepatomegaly, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[] […] neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly[]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[] Often, the first symptoms of Hunter syndrome may include inguinal or umbilical hernias, ear infections, runny noses and frequent upper respiratory infections.[] Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly[]

  • Mucopolysaccharidosis 1

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[] Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[]

  • Lipodystrophy

    Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.[] No patient had umbilical hernia.[] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[]

  • Beckwith-Wiedemann Syndrome

    […] creases / pits Case of BWS with an enlarged tongue and omphalocele Gross images Images hosted on other servers: Large lobulated adrenal glands Placental mesenchymal dysplasia Hepatomegaly[] hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[]

  • Aarskog Syndrome

    […] of the feet, ligament laxity, osteochondritis dissecans, genu recurvatum, flat feet, cervical spine hypermobility, odontoid anomaly, macrocytic anemia, hemochromatosis, hepatomegaly[] Umbilical hernia (where the belly button sticks out) and inguinal hernia (swelling in the groin from a weakness in the abdominal wall) are also common.[] face with widow's peak and, in one of them, ptosis of the eyelids.[]

  • Liver Cirrhosis

    Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia.[] However, peripheral cyanosis involving the fingers, toes, area around an umbilical hernia, and scrotum was noted. Thus, terlipressin administration was discontinued.[] face ("chipmunk cheeks") Enlarged abdomen Inability to sleep Mood swings Hand tremors (shaking) Acne Steroid dependency Note: Patients must never stop or reduce the prednisone[]

  • Hepatosplenic Amyloidosis

    Craggy hepatomegaly Suggests: primary hepatoma or secondary tumours.[] hernia repair Laparoscopy scars – more common, very small and multiple (often one at umbilicus) Lateral thoracolumbar incision – nephrectomy 5.[] Contributions from many leading surgical pathologists give you well-rounded, expert answers to any question that you may face.[]

  • Mauriac's Syndrome

    Mauriac's syndrome should be considered in subjects with brittle type 1 diabetes and hepatomegaly.[] Study: post-surgery opioid prescription rates for children vary by region 12/20/2018 More than 50 percent of children who undergo umbilical hernia repair are given opioids[] She had no dysmorphic features, but a rounded, moonish face.[]

  • Down Syndrome

    Ultrasound features indicative of TAM included hepatomegaly splenomegaly (79.5%), hydrops fetalis (30.8%), pericardial effusion (23.1%) and aberrant liquor volume (15.4%).[] 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[] Amongst these features, hepatomegaly, splenomegaly, pericardial/pleural effusions and skin rash are seen more frequently in neonates with TAM compared with neonates without[]

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