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422 Possible Causes for Hepatomegaly, Macrocephaly, Round Face

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[]

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[]

  • Mucopolysaccharidosis 1

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[]

  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[]

  • Neuhauser Syndrome

    […] cholestasis - hyperandrogenism: polycystic ovary syndrome, gynecomastia, macropenis or hypertophy of the clitoris - excessive growth of some organs: hypertrophic cardiomyopathy, hepatomegaly[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[]

  • Mulibrey Nanism Syndrome

    Hepatomegaly is yet another important presenting feature of Mulibrey Nanism.[] face, frontal bossing and short broad neck with prominent trapezius muscles, tall vertebral bodies, and hip dislocation (Figure 1 c).[] […] aged 3 years, was suspected to have Silver–Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly[]

  • Aarskog-Scott Syndrome

    […] of the feet, ligament laxity, osteochondritis dissecans, genu recurvatum, flat feet, cervical spine hypermobility, odontoid anomaly, macrocytic anemia, hemochromatosis, hepatomegaly[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[]

  • Glutaric Aciduria Type 2

    The first group of MADD-S patients are often premature presenting with severe non-ketotic hypoglycemia, hypotonia, hepatomegaly and severe metabolic acidosis within the first[] Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction[] All children with GA-I and macrocephaly (75% of the patients) are at risk for subdural hemorrhage at any age but especially during peak periods of macrocephaly (late infancy[]

  • Glycogen Storage Disease Type 3

    Hepatomegaly and growth retardation are other common features.[] On examination he had round face, his weight was 11 kg and height was 80 cm, both were less than 3rd percentile for his age.[] He was noted to have hypotonia, macrocephaly, a coarse facial appearance, low set ears with thick lobes, downward slanting palpebral fissures, epicanthic folds, depressed[]

  • Glycogen Storage Disease

    They were ultimately found to have hepatomegaly, fasting hypoglycemia, mild elevation of transaminases and ketosis.[] Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction[] Phenotype of macrocephaly, coarse facies similar to Hurler. Mental retardation and hydrocephalus, slower neurological deterioration than Hurler.[]

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