Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature

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. Addit...

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Published inBoletín médico del Hospital Infantil de México (Spanish edition) Vol. 80; no. 91
Main Authors Mariana Goitia-Cárdenas, Coztli O. Azotla-Vilchis, América L. Miranda-Lora
Format Journal Article
LanguageEnglish
Published Permanyer 12.07.2023
Subjects
Robinow syndrome. Growth hormone. WNT5A gene
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Summary: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.
ISSN:0539-6115
DOI:10.24875/BMHIM.22000101