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. 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.

• Publication year

  2023

• Venue

  Boletín Médico del Hospital Infantil de México

• Publication date

  2023-03-14

• Fields of study

  Medicine

• Identifiers
  DOI 10.24875/BMHIM.22000101PMID 36917807
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1998influential reference
• A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone.

  1997cited by this paper

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