Search Results - "Aynaci, F M"
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Parry-Romberg syndrome associated with Adie’s pupil and radiologic findings
Published in Pediatric neurology (01-11-2001)“…We describe Adie’s pupil and radiologic changes related to Parry-Romberg syndrome in a child who presented with facial hemiatrophy with no neurologic deficit…”
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2
Cholelithiasis in infants with Down syndrome: report of two cases
Published in Acta pædiatrica (Oslo) (01-06-1995)“…Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder…”
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3
A case of Menkes' syndrome associated with deafness and inferior cerebellar vermian hypoplasia
Published in Acta Paediatrica (01-01-1997)Get full text
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4
Fuhrmann syndrome associated with cortical dysplasia
Published in Genetic counseling (2001)“…We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs,…”
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5
Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies
Published in Genetic counseling (2001)“…Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a…”
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6
A case of VATER association associated with 9qh
Published in Genetic counseling (1996)Get more information
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7
Atrial septal defect in Hallermann Streiff syndrome
Published in Genetic counseling (1997)Get more information
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8
Ileal hypoplasia in the infant of a diabetic mother
Published in Genetic counseling (1994)Get more information
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9
A case of Alström syndrome associated with diabetes insipidus
Published in Clinical genetics (01-09-1995)Get more information
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10
Effect of Antiepileptic Drugs on Plasma Lipoprotein (a) and Other Lipid Levels in Childhood
Published in Journal of child neurology (01-05-2001)“…Antiepileptic drugs may alter plasma lipid status in epileptic patients. We conducted a study to assess the effect of phenobarbital, carbamazepine, and…”
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11
Rasmussen encephalitis in childhood
Published in Child's nervous system (01-08-1999)“…Six patients admitted to the Department of Pediatric Neurology at Hacettepe University Children's Hospital between 1992 and 1997 with a clinical diagnosis of…”
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12
Proteus syndrome associated with liver involvement: case report
Published in Genetic counseling (2003)“…We report a patient with proteus syndrome who has epidermal nevus, right-sided asymmetric growth of extremities, pelvis, vertebrae and hemimegalencephaly. This…”
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13
Progressive Osseous Heteroplasia. A Case Report and Review of the Literature
Published in Journal of pediatric orthopaedics. B (01-10-2002)“…Progressive osseous heteroplasia is a rare childhood disorder that is characterized by ectopic progressive ossification of skin, muscle, and connective tissue…”
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14
A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome
Published in Clinical genetics (01-10-1996)“…We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and…”
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15
Frequency of cardiovascular and gastrointestinal malformations, leukemia and hypothyroidism in children with Down syndrome in Trabzon, Turkey
Published in Turkish journal of pediatrics (01-01-1998)“…This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down…”
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16
Seckel's syndrome associated with congenital cystic adenomatoid malformation of the lung
Published in Acta pædiatrica (Oslo) (01-07-1995)Get more information
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17
Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features
Published in Journal of child neurology (01-01-2002)“…We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and…”
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18
Rhombencephalosynapsis Associated With Cutaneous Pretibial Hemangioma in an Infant
Published in Journal of child neurology (01-03-2003)“…Rhombencephalosynapsis is a rare congenital abnormality characterized by noncleavage of the cerebellar hemispheres and dentate nuclei with agenesis or severe…”
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19
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis
Published in Child's nervous system (01-12-2002)“…In this paper, a patient with mucolipidosis II (I-cell disease) is described. The initial findings were microcephaly and metopic craniosynostosis. He had…”
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20
Peripheral facial paralysis as initial manifestation of hypertension in a child
Published in Turkish journal of pediatrics (01-01-2002)“…Hypertension is one of the rare causes of peripheral facial paralysis in children. The unawareness of this association at presentation may cause serious…”
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