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Boletín médico del Hospital Infantil de México
Print version ISSN 1665-1146
Abstract
GOITIA-CARDENAS, Mariana; AZOTLA-VILCHIS, Coztli O. and MIRANDA-LORA, América L.. Robinow syndrome and its response to growth hormone treatment. Bol. Med. Hosp. Infant. Mex. [online]. 2023, vol.80, suppl.1, pp.40-46. Epub Sep 11, 2023. ISSN 1665-1146. https://doi.org/10.24875/bmhim.22000101.
Background:
Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases.
Case report:
We present the case of a 13-year and one-month-old male who came for medical consultation at 3 years of age due to short stature. Additionally, the patient showed craniofacial dysmorphia, congenital heart disease, and growth hormone deficiency. As per family history, the mother presented the same phenotype. The genetic study identified an unreported variant of the WNT5A gene.
Conclusions:
The patient initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing his height from the < 1st percentile to the 44th percentile.
Keywords : Robinow syndrome; Growth hormone; WNT5A gene.
