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Review
. 2021 May 31:22:e930824.
doi: 10.12659/AJCR.930824.

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature

Mossa N A Al Motawa  1 , Manal S S Al Shehri  1 , Majed J Al Buali  1 , Amnah A M Al Agnam  2
Affiliations
Review

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature

Mossa N A Al Motawa et al. Am J Case Rep. .

Abstract

BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified. Weill-Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 gene, ADAMTS10 gene, ADAMTS17 gene, or LTBP2 gene. Despite genetic heterogeneity, WMS is clinically homogeneous. It is characterized by short stature, brachydactyly, joint stiffness, ocular abnormalities, mainly microspherophakia and glaucoma, and occasionally cardiac defects. CASE REPORT A 9-year-old boy had bilateral narrow-angle glaucoma with lens subluxation, elevated intraocular pressure, and severe myopia since early childhood. He had phenotypic dysmorphic features and radiological findings consistent with WMS. He underwent lensectomy and scleral-fixated intraocular lens implantation as well as drug treatment to control the intraocular pressure. He was a slow grower, and his growth parameters showed disproportionate short stature with brachydactyly and joint stiffness. Growth hormone provocation tests were subnormal with a peak value of 7.89 ng/mL. CONCLUSIONS The constellation of clinical presentation, radiological findings, and the molecular examination confirmed a homozygous familial variant of the ADAMTS10 gene identified by carrier gene testing. This known familial variant creates a premature termination codon classified as a likely pathogenic cause of WMS. In this syndrome, glaucoma treatment is considered the greatest challenge. The disease-causing mechanism in WMS is not known but thought to be due to abnormal actin distribution and organization in fibroblasts as a result of impaired connections between extracellular matrix components and the cytoskeleton.

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Conflict of interest statement

Conflict of interest: None declared

Conflict of Interest

None.

Figures

Figure 1.
Figure 1.
(A) Height of our patient at ages 7 years and 9 years plotted against height for 2- to 20-year-old males (CDC Growth Chart). (B) Body mass index (BMI) of our patient at the age of 9 years plotted against BMI for 2- to 20-year-old males (CDC Growth Chart). (C) Arm span minus height: −8.5 cm; arm span divided by height: 0.92.
Figure 2.
Figure 2.
(A) Frontal and lateral photograph of the patient with WMS. (B) Photograph of the hand of the WMS patient showing short hands and stubby fingers (brachydactyly), as well as curvature of the fourth and little fingers (clinodactyly). (C) Photograph of the foot of the patient with WMS showing short toes and overlapping second and third toes. WMS – Weill-Marchesani syndrome.
Figure 3.
Figure 3.
Frontal left-hand radiograph showing small middle phalanx of the little finger causing shortening and curvature of the little finger.
Figure 4.
Figure 4.
Pedigree of the family with Weill-Marchesani syndrome including 3 generations.
See this image and copyright information in PMC

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