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The diagnosis of Dubowitz syndrome in the neonatal period — a case report

✍ Scribed by A. Shuper; P. Merlob; R. Weitz; I. Varsano

Publisher
Springer
Year
1986
Tongue
English
Weight
469 KB
Volume
145
Category
Article
ISSN
0340-6997

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✦ Synopsis

We present an infant with Dubowitz syndrome diagnosed at birth and followed for 2 years. Presence of the syndrome was suspected at birth on the basis of the anthropometric data and peculiar facial appearance. However, during the follow-up period some changes in the appearance have taken place. It is suggested that the neonatal anthropometric measurements are important diagnostic criteria for Dubowitz syndrome.

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## Abstract Hypochondroplasia (HCH) is the mildest phenotype among fibroblast growth factor receptor 3 (__FGFR3)__‐associated skeletal dysplasias. Affected individuals usually presents with mild short stature in preschool age. It was uncommon that a diagnosis of HCH is made in young affected childr