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90 Possible Causes for Juvenile Familial Leg Ulcers, Large Anterior Fontanel at Birth

  • Cerebral Cortical Atrophy

    Abstract Computed tomography of the head in 15 children with end-stage renal disease revealed cerebral cortical atrophy in eight and ventricular enlargement in an additional two. These changes were not necessarily associated with any clinical signs or symptoms. Although high doses of steroids may have been[…][ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Neonatal Adrenoleukodystrophy

    Abstract The metabolism of long chain unsaturated fatty acids was studied in cultured fibroblasts from patients with X-linked adrenoleukodystrophy (ALD) and with neonatal ALD. By using [14-14C] erucic acid (22:1(n-9)) as substrate it was shown that the peroxisomal beta-oxidation, measured as chain shortening, was[…][ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Raine Syndrome

    The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanelle, exophthalmos, severe depression of the nasal bridge with a hypoplastic[ncbi.nlm.nih.gov] The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanel, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface[cags.org.ae] […] midface, bilateral choanal atresia and a large protruding tongue.[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Oculocerebrorenal Syndrome

    Abstract The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X‐linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate‐5‐phosphatase. We performed the[…][doi.org]

    Missing: Juvenile Familial Leg Ulcers
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, proptosis and low nasal bridge.[orpha.net] Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.[orpha.net]

    Missing: Juvenile Familial Leg Ulcers
  • Progeroid Syndrome Type Petty

    […] open anterior fontanelle, and nor- mal cognitive and motor development.[docslide.net] ulcers juvenile cataracts hypogonadism, which is associated with reduced fertility tendency to develop diabetes calcification of blood vessels osteoporosis metastatic calcification[plasticsurgerykey.com] Both patients have had a prematurely aged ap- pearance since birth.[docslide.net]

  • Hydrocephalus

    It can also be used after birth while the anterior fontanelle remains open. MRI This test uses large magnets, radio waves, and a computer.[cedars-sinai.org]

    Missing: Juvenile Familial Leg Ulcers
  • Congenital Dyserythropoietic Anemia

    Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features (large anterior fontanel, hypertelorism, micropenis, and hypospadias)[orpha.net] Clinical description Patients have been described as having severe anemia at birth that requires repeated transfusions.[orpha.net]

    Missing: Juvenile Familial Leg Ulcers
  • Pericardial Effusion

    […] bridge, widely split sutures, large anterior fontanelle), liver dysfunction, and in older children progressive sensorineural hearing loss, retinal dystrophy and developmental[orpha.net] Onset of manifestations is usually soon after birth or in childhood and includes neonatal seizures, hypotonia, distinctive craniofacial features (flattened facies, broad nasal[orpha.net]

    Missing: Juvenile Familial Leg Ulcers
  • Congenital Non-Goitrous Hypothyroidism Type 4

    Within the first month after birth, the patient manifested feeding difficulties, lethargy, persistent jaundice, umbilical hernia, and large anterior and open posterior fontanels[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers

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