Prenatal diagnosis of hypochondroplasia: Report of two cases | Zendy

Karadimas C. | Zendy; Sifakis S. | Zendy; Valsamopoulos P. | Zendy; Makatsoris C. | Zendy; Velissariou V. | Zendy; Nasioulas G. | Zendy; Petersen M. B. | Zendy; Koumantakis E. | Zendy; Hatzaki A. | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Prenatal diagnosis of hypochondroplasia: Report of two cases

Author(s) -

Karadimas C.,

Sifakis S.,

Valsamopoulos P.,

Makatsoris C.,

Velissariou V.,

Nasioulas G.,

Petersen M. B.,

Koumantakis E.,

Hatzaki A.

Publication year - 2006

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31177

Subject(s) - achondroplasia , medicine , prenatal diagnosis , genetic counseling , dysplasia , short stature , in utero , femur , fibroblast growth factor receptor 3 , polydactyly , fetus , obstetrics , anatomy , endocrinology , pediatrics , genetics , pregnancy , surgery , biology , receptor , fibroblast growth factor

Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor. Here we present two sporadic cases with second trimester ultrasound findings consistent with a diagnosis of a non‐lethal skeletal dysplasia. Ultrasound evaluation after 23 weeks of gestation showed a decreased rate of development of the femora (femur length

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research