Hypochondroplasia

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


Total: 2

                       


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PMID (PMCID)
27485793
 FEMALE
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.
Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.
Brain Dev. 2017;39(1):67-71.
Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly.
21225389
 FEMALE
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
Dumic K, Barisic I, Potocki K, Sansovic I.
J Appl Genet. 2011;52(2):209-12.
She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed.