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

Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases. 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 show...

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Published inBoletin medico del Hospital Infantil de Mexico Vol. 80; no. Supl 1; p. 040
Main Authors Goitia-Cárdenas, Mariana, Azotla-Vilchis, Coztli O, Miranda-Lora, América L
Format Journal Article
LanguageEnglish
Published Mexico 12.07.2023
Subjects
WNT5A gene
Robinow syndrome
Growth hormone
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Summary:Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases. 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. 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 < 1 percentile to the 44 percentile.
ISSN:1665-1146