The Experts below are selected from a list of 21 Experts worldwide ranked by ideXlab platform
Alfadley Abdullah - One of the best experts on this subject based on the ideXlab platform.
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Two Siblings Born Preterm With Large Ears and Hypopigmented Hair Who Developed Palmoplantar Keratoderma and Frontal Skull Bossing: A New Syndrome?
Pediatric dermatology, 2002Co-Authors: Alfadley Abdullah, M. Parkes RosalindAbstract:This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal Bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we describe a new syndrome with an autosomal recessive mode of inheritance.
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two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal Skull Bossing a new syndrome
Pediatric Dermatology, 2002Co-Authors: Alfadley Abdullah, Parkes M RosalindAbstract:: This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal Bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we believe we describe a new syndrome with an autosomal recessive mode of inheritance.
Parkes M Rosalind - One of the best experts on this subject based on the ideXlab platform.
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two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal Skull Bossing a new syndrome
Pediatric Dermatology, 2002Co-Authors: Alfadley Abdullah, Parkes M RosalindAbstract:: This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal Bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we believe we describe a new syndrome with an autosomal recessive mode of inheritance.
M. Parkes Rosalind - One of the best experts on this subject based on the ideXlab platform.
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Two Siblings Born Preterm With Large Ears and Hypopigmented Hair Who Developed Palmoplantar Keratoderma and Frontal Skull Bossing: A New Syndrome?
Pediatric dermatology, 2002Co-Authors: Alfadley Abdullah, M. Parkes RosalindAbstract:This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal Bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we describe a new syndrome with an autosomal recessive mode of inheritance.
M Wimalendra - One of the best experts on this subject based on the ideXlab platform.
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g108 p frontal Skull Bossing the presenting feature of congenital sideroblastic anaemia
Archives of Disease in Childhood, 2017Co-Authors: K Richardson, O Tunstall, M WimalendraAbstract:A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she was noted to have frontal Skull Bossing and an increase in her head circumference from the 50 th to the 98 th centile. She was developing normally and was neurologically intact; however she did appear very pale. A Skull x-ray was performed which showed abnormally thickened bones over the frontal and occipital regions with an apparent ‘hair on end’ appearance. This has previously been seen in haemolytic anaemias, but not reported in sideroblastic anaemia. A full blood count showed a marked microcytic anaemia and bone marrow showed ring sideroblasts. Genetic testing confirmed a homozygous mutation in the SLC25A38 gene that is associated with autosomal recessive congenital sideroblastic anaemia. She received a blood transfusion at the time of diagnosis and remains transfusion dependant. This case illustrates frontal Bossing as a potential presenting feature of sideroblastic anaemia. Congenital sideroblastic anaemia’s are rare conditions caused by mutations in enzymes involved in the insertion of iron into the haemoglobin molecule. Mutations of SLC25A25A38 are inherited in an autosomal recessive pattern and give rise to a non-syndromic severe microcytic anaemia, which often presents in the first few months of life.
K Richardson - One of the best experts on this subject based on the ideXlab platform.
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g108 p frontal Skull Bossing the presenting feature of congenital sideroblastic anaemia
Archives of Disease in Childhood, 2017Co-Authors: K Richardson, O Tunstall, M WimalendraAbstract:A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she was noted to have frontal Skull Bossing and an increase in her head circumference from the 50 th to the 98 th centile. She was developing normally and was neurologically intact; however she did appear very pale. A Skull x-ray was performed which showed abnormally thickened bones over the frontal and occipital regions with an apparent ‘hair on end’ appearance. This has previously been seen in haemolytic anaemias, but not reported in sideroblastic anaemia. A full blood count showed a marked microcytic anaemia and bone marrow showed ring sideroblasts. Genetic testing confirmed a homozygous mutation in the SLC25A38 gene that is associated with autosomal recessive congenital sideroblastic anaemia. She received a blood transfusion at the time of diagnosis and remains transfusion dependant. This case illustrates frontal Bossing as a potential presenting feature of sideroblastic anaemia. Congenital sideroblastic anaemia’s are rare conditions caused by mutations in enzymes involved in the insertion of iron into the haemoglobin molecule. Mutations of SLC25A25A38 are inherited in an autosomal recessive pattern and give rise to a non-syndromic severe microcytic anaemia, which often presents in the first few months of life.