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Titolo:
Markers for bone metabolism in a long-lived case of thanatophoric dysplasia
Autore:
Kuno, T; Fujita, I; Miyazaki, S; Katsumata, N;
Indirizzi:
Saga Med Sch, Dept Pediat, Saga 8498501, Japan Saga Med Sch Saga Japan 8498501 ed Sch, Dept Pediat, Saga 8498501, Japan Natl Childrens Med Res Ctr, Dept Endocrinol & Metab, Tokyo 1548509, Japan Natl Childrens Med Res Ctr Tokyo Japan 1548509 tab, Tokyo 1548509, Japan
Titolo Testata:
ENDOCRINE JOURNAL
, volume: 47, anno: 2000, supplemento:, S
pagine: S141 - S144
SICI:
0918-8959(200003)47:<S141:MFBMIA>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHILDREN FOLLOWING DISCONTINUATION; GROWTH-HORMONE THERAPY; COLLAGEN;
Keywords:
fibroblast growth factor receptor 3; growth; development; acanthosis nigricance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: Kuno, T Saga Med Sch, Dept Pediat, Saga 8498501, Japan Saga Med Sch SagaJapan 8498501 Dept Pediat, Saga 8498501, Japan
Citazione:
T. Kuno et al., "Markers for bone metabolism in a long-lived case of thanatophoric dysplasia", ENDOCR J, 47, 2000, pp. S141-S144

Abstract

We report a male patient with type 1 thanatophoric dysplasia, now eight years old, having a mutation in the FGFR3 gene. Radiological examination at birth revealed that the ribs and the bones of the extremities were very short and vertebral bodies were greatly reduced in height with wide intervertebral spaces. The femurs were shaped like French telephone receivers. Becauseof respiratory insufficiency due to the narrow thorax, the patient has been intubated and supported by continuous mechanical ventilation since the day after birth. Since 5 years of age, despite sufficient caloric intake, hisbody weight never increased above 4700 g, body height 49.0 cm, head circumference 46.1 cm, and chest circumference 35.8 cm. Acanthosis nigricance andhuge bilateral coral-like urolithiases has been present. His mental development was severely retarded but he was able to make emotional expressions. Although developments in motor functions could not be assessed, his neurodevelopmental milestones in social relationships and langage perception seemed to be at the level of a 10 to 12 month old. His bone maturation was also severely retarded. All of the assays of his serum and urinary bone formation- or resorption-related substances were within normal limits for age. Therefore, bone formation as well as bone resorption activities seemed normal and not responsible for his growth retardation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 17:00:09