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Achondroplasia-hypochondroplasia complex

✍ Scribed by Sommer, Annemarie ;Young-Wee, Theresa ;Frye, Thomas ;Reynolds, James F.


Book ID
102701858
Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
690 KB
Volume
26
Category
Article
ISSN
0148-7299

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Achondroplasia-hypochondroplasia complex
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We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380

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We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) m

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