New Congenital Malformation Syndrome with Severe Short Stature, Craniosynostosis, and Generalized Osseous Dysplasia in Two Siblings; New Osseous Dysplasia in Two Siblings
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概要
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We present two Japanese siblings with a new congenital malformation syndrome. The patients, who are an older sister and a younger brother, were born to healthy and unrelated parents. The clinical features are characterized by proportional short stature (-5.1SD, -3.6SD), craniofacial dysmorphism related to craniosynostosis, and generalized osseous dysplasia.<BR>The skeletal changes consist of brachymesophalangy and metaphyseal dysplasia with spontaneous regression. The metaphyseal changes, which are localized in the wrists and knees, were initially cup-like radiolucencies mimicking those of rickets. The metaphyseal bony defects have been spontaneously remodeled, turning into ovoid radiolucencies and finally leaving only subtle radiolucencies at 3 or 4 years of age.<BR>GH provocation tests showed stunted response with peak serum GH of 6.7, 12.1, 1.9 ng/mL in the older sister and 7.7, 7.7, 7.9 ng/mL in the younger brother after insulin, clonidine, and I-dopa loading. The endocrinological abnormality, however, was not thought to be the cause of severe short stature in our patients.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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