Ullrich-Turner syndrome and neurofibromatosis-1.
Identifieur interne : 00B909 ( Ncbi/Merge ); précédent : 00B908; suivant : 00B910Ullrich-Turner syndrome and neurofibromatosis-1.
Auteurs : E K Schorry [États-Unis] ; A M Lovell ; A. Milatovich ; H M SaalSource :
- American journal of medical genetics [ 0148-7299 ] ; 1996.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- complications : Brain Neoplasms, Neurofibromatosis 1, Turner Syndrome.
- genetics : Brain Neoplasms, Neurofibromatosis 1, Noonan Syndrome, Turner Syndrome.
- Child, Dwarfism, Female, Humans, Infant, Newborn, Mosaicism.
Abstract
There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L
PubMed: 8989459
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pubmed:8989459Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain Neoplasms (complications)</term>
<term>Brain Neoplasms (genetics)</term>
<term>Child</term>
<term>Dwarfism</term>
<term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Mosaicism</term>
<term>Neurofibromatosis 1 (complications)</term>
<term>Neurofibromatosis 1 (genetics)</term>
<term>Noonan Syndrome (genetics)</term>
<term>Turner Syndrome (complications)</term>
<term>Turner Syndrome (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mosaïcisme</term>
<term>Nanisme</term>
<term>Neurofibromatose de type 1 ()</term>
<term>Neurofibromatose de type 1 (génétique)</term>
<term>Nouveau-né</term>
<term>Syndrome de Noonan (génétique)</term>
<term>Syndrome de Turner ()</term>
<term>Syndrome de Turner (génétique)</term>
<term>Tumeurs du cerveau ()</term>
<term>Tumeurs du cerveau (génétique)</term>
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<term>Neurofibromatosis 1</term>
<term>Turner Syndrome</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Neoplasms</term>
<term>Neurofibromatosis 1</term>
<term>Noonan Syndrome</term>
<term>Turner Syndrome</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Neurofibromatose de type 1</term>
<term>Syndrome de Noonan</term>
<term>Syndrome de Turner</term>
<term>Tumeurs du cerveau</term>
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<term>Mosaïcisme</term>
<term>Nanisme</term>
<term>Neurofibromatose de type 1</term>
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<front><div type="abstract" xml:lang="en">There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.</div>
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<Abstract><AbstractText>There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple café-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.</AbstractText>
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