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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