Overlap between Baller-Gerold and Rothmund-Thomson syndrome
| Autor: | J. Bonaventure, Jacques Loiselet, V El Ghouzzi, J Gerbaka, A Mornand, André Mégarbané, Imad Melki, Noëlle Souraty |
|---|---|
| Přispěvatelé: | El Ghouzzi, Vincent |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
medicine.medical_specialty
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology Body height business.industry Poikiloderma General Medicine [SDV.GEN] Life Sciences [q-bio]/Genetics [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics medicine.disease Short stature Dermatology Diagnosis of exclusion Pathology and Forensic Medicine Absent thumb body regions [SDV] Life Sciences [q-bio] Male patient Pediatrics Perinatology and Child Health medicine Anatomy medicine.symptom business Rothmund–Thomson syndrome ULNAR HYPOPLASIA Genetics (clinical) |
| Zdroj: | Europe PubMed Central |
| Popis: | We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. This report confirms the overlap between these two syndromes, and that Baller-Gerold syndrome is essentially a diagnosis of exclusion. |
| Databáze: | OpenAIRE |
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